Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site

BackgroundAdult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized.Materials and methodsWe retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more. Survival analysis estimated the relationship between dystonia features and spread to a third body part.ResultsWe identified 340 patients with segmental/multifocal dystonia involving at least two body parts. Spread of dystonia to a third body site occurred in 42/241 patients (17.4%) with focal onset and 10/99 patients (10.1%) with segmental/multifocal dystonia at onset. The former had a greater tendency to spread than patients with segmental/multifocal dystonia at onset. Gender, years of schooling, comorbidity, family history of dystonia/tremor, age at dystonia onset, and disease duration could not predict spread to a third body site. Among patients with focal onset in different body parts (cranial, cervical, and upper limb regions), there was no association between site of focal dystonia onset and risk of spread to a third body site.Discussion and conclusionSpread to a third body site occurs in a relative low percentage of patients with idiopathic adult-onset dystonia affecting two body parts. Regardless of the site of dystonia onset and of other demographic/clinical variables, focal onset seems to confer a greater risk of spread to a third body site in comparison to patients with segmental/multifocal dystonia at onset.     

Head tremor in cervical dystonia

OBJECTIVE: To compare the clinical characteristics, natural history, and therapeutic outcome of patients with cervical dystonia (CD) with head tremor (HT+) and without head tremor (HT-). METHODS: We prospectively evaluated 114 consecutive patients of CD over a 9-month period with a detailed questionnaire. Chi-square and t-tests were employed for statistical analysis. RESULTS: Seventy-eight (68.4%) patients had head tremor and 27 of them (34.6%) had tremor as one of the first symptoms. Age at onset of symptoms were similar in HT+ and HT- groups; however there was a higher prevalence in women in the former group (66.7% vs. 41.7%; p=0.01). HT+ patients had more frequent positive family history of essential-like hand/head tremor (21.8% vs. 5.5%; p<0.05), associated neck pain (92.3% vs. 77.8%: p<0.05), and essential-like hand tremor (40% vs. 8.3%; p<0.001). They also appeared to have more frequent history of preceding head/neck trauma (14.1% vs. 8.3%), frequent head rotation (88.5% vs. 69.4%) and antecollis (12.8% vs. 5.5%) but less often head tilt (37.2% vs. 47.2%) and gestes antagonistes (60.2% vs. 75%) than the HT- patients; however these differences were not statistically significant. The frequency of prior psychiatric illnesses, the incidence of dystonias in other parts of the body, frequency of retrocollis and shoulder elevation, and spontaneous remission were similar in the two groups. CONCLUSION: Head tremor is common in CD and is more commonly associated with hand tremor and family history of tremor or other movement disorders. This supports a possible genetic association between CD and essential tremor (ET). Linkage studies are required to evaluate the genetic association between CD and ET.     

Tremor associated with focal and segmental dystonia

Background and purposeTremor occurs in 10–85% of patients with focal dystonia as so-called dystonic tremor or tremor associated with dystonia. The aim of this study was to assess the incidence and to characterize parameters of tremor accompanying focal and segmental dystonia.Material and methodsOne hundred and twenty-three patients with diagnosis of focal and segmental dystonia together with 51 healthy controls were included in the study. For each participant, clinical examination and objective assessment (accelerometer, electromyography, graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor); with hands extended (postural tremor); during ‘finger-to-nose’ test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, type of tremor was determined as essential tremor type or enhanced physiological type.ResultsThe incidence of tremor was significantly higher in dystonic patients as compared to controls (p = 0.0001). In clinical examination, tremor was found in 50% of dystonic patients, and in instrumental assessment in an additional 10–20%. The most frequent type of tremor was postural and kinetic tremor with 7 Hz frequency and featured essential tremor type. In the control group, tremor was detected in about 10% of subjects as 9-Hz postural tremor of enhanced physiological tremor type. No differences were found between patients with different types of dystonia with respect to the tremor incidence, type and parameters (frequency and severity). No correlations between tremor severity and dystonia severity were found either.     

Characterizing vocal tremor in progressive neurological diseases via automated acoustic analyses

ObjectiveVoice tremor represents a common but frequently overlooked clinical feature of neurological disease. Therefore, we aimed to quantitatively and objectively assess the characteristics of voice tremor in a large sample of patients with various progressive neurological diseases.MethodsVoice samples were acquired from 240 patients with neurological disease and 40 healthy controls. The robust automated method was designed, allowing precise tracking of multiple tremor frequencies and distinguish pathological from the physiological tremor.ResultsAbnormal tremor was revealed in Huntington’s disease (65%), essential tremor (50%), multiple system atrophy (40%), cerebellar ataxia (40%), amyotrophic lateral sclerosis (40%), progressive supranuclear palsy (25%), Parkinson’s disease (20%), cervical dystonia (10%), and multiple sclerosis (8%) but not in controls. Low-frequency voice tremor (<4 Hz) was common in all investigated diseases, whereas medium tremor frequencies (4–7 Hz) were specific for movement disorders of Parkinson’s disease, multiple system atrophy, essential tremor, and cervical dystonia.ConclusionsCareful estimation of vocal tremor may help with accurate diagnosis and tailored treatment.SignificanceThis study provides (i) more insights into the pathophysiology of vocal tremor in a wide range of neurological diseases and (ii) an accurate method for estimation of vocal tremor suitable for clinical practice.     

Arm swing is reduced in idiopathic cervical dystonia

Arm swing is typically reduced in people with Parkinsonism, and also in those with pyramidal dysfunction. We have previously observed that patients with focal arm dystonia can also have reduced arm swing. However, arm swing has not been formally studied in adult‐onset primary cervical dystonia (AOPCD). We assessed arm swing in 100 consecutive patients diagnosed with AOPCD and 50 healthy controls. Reduced arm swing was more common in patients with AOPCD compared with healthy controls (55% vs. 6%, P < 0.001) and was more often abnormal on the same side as the direction of head turning (P < 0.05). Women with AOPCD had more often reduced arm swing compared with men (P = 0.002). Reduced arm swing is common in AOPCD. It may indicate segmental spread of subtle motor dysfunction or it may be a feature of dystonia per se. © 2008 Movement Disorder Society     

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

IntroductionMutations in GNAL have been associated with adult-onset cranio-cervical dystonia, but a limited number of cases have been reported so far and the clinical spectrum associated with this gene still needs to be fully characterized.MethodsWe identified an Italian family with adult-onset, dominantly-inherited dystonia whose members presented with different combinations of dystonia affecting the cervical, oro-mandibular and laryngeal regions associated with prominent tremor in some cases. Pure asymmetric upper limb dystonic tremor was present in one of the members and jerky cervical dystonia was also observed. A dedicate dystonia gene panel (Illumina) was used to screen for dystonia-associated genes and Sanger sequencing was performed to confirm results obtained and to perform segregation analysis.ResultsA novel single-base mutation in GNAL exon 9 (c.628G>A; p.Asp210Asn) leading to an aminoacidic substitution was identified and confirmed by Sanger sequencing. In silico prediction programmes as well as segregation analysis confirmed its pathogenicity. Clinically, no generalization of dystonia was observed after onset and DBS lead to an excellent motor outcome in two cases.ConclusionWe report a novel GNAL mutation and expand the clinical spectrum associated with mutations in this gene to comprise pure asymmetric dystonic tremor and a jerky cervical phenotype partially mimicking DYT11 positive cases.     

Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life: Results of a controlled study

IntroductionThe aim of this study was to systematically investigate the prevalence of psychiatric disorders and factors influencing health-related quality of life (HR-QoL) in cervical dystonia (CD) patients, in the context of objective dystonia motor severity.MethodsWe studied 50 CD patients and 50 matched healthy controls. Psychiatric assessment included the MINI–PLUS interview and quantitative questionnaires. Dystonia motor severity (based on video evaluation), pain and disability were determined with the TWSTRS rating scale. In addition, severity of tremor and jerks was evaluated with the 7-point CGI-S scale. HR-QoL was determined with the RAND-36 item Health Survey and predictors of HR-QoL were assessed using multiple regression analysis.ResultsIn CD patients, the MINI-PLUS revealed a significantly higher prevalence of psychiatric disorders (64% vs. 28%, p = 0.001), with substantially more depression (32% vs. 14%) and anxiety disorders (42% vs. 8%). This was confirmed by the quantitative rating scales. Disease characteristics did not differ between patients with and without a psychiatric diagnosis. HR-QoL in dystonia patients was significantly lowered. The most important predictors of HR-QoL appeared severity of depressive symptoms, pain and disability, but not severity of motor symptoms.ConclusionPsychiatric co-morbidity is highly prevalent and is an important predictor of HR-QoL in CD patients, rather than dystonia motor severity. Our findings support the theory of a shared neurobiology for motor and non-motor features and highlight the need for systematic research into psychiatric disorders in dystonia. Adequate treatment of psychiatric symptoms could significantly contribute to better overall quality of life of CD patients.     

Cervical dystonia: clinical findings and associated movement disorders

We studied 300 patients, 61% women, with mean age 49.7 years and mean duration of dystonia 7.8 years, to determine the demographic and clinical characteristics of cervical dystonia (CD) and its relationships to other movement disorders. Torticollis was present in 82%, laterocollis in 42%, retrocollis in 29%, and anterocollis in 25%; however, the majority (66%) had a combination of these abnormal postures. Scoliosis was present in 39%, local pain reported by 68%, and 32% had evidence of secondary cervical radiculopathy. In addition to CD, 16% of patients had oral dystonia, 12% mandibular dystonia, 10% hand/arm dystonia, and 10% had blepharospasm. Tremor was noted in 71% of patients; head-neck tremor was present in 60%, and tremor in other body regions was present in 32%. A family history of a movement disorder was present in 44% of the CD patients. Tardive dystonia was the cause in 6%; 11% had posttraumatic dystonia. Anticholinergic drugs provided moderate improvement in 33% of patients, but local intramuscular botulinum toxin injections relieved CD, local pain, or both in over 90% of all treated patients.     

Distinguishing SWEDDs patients with asymmetric resting tremor from Parkinson's disease: A clinical and electrophysiological study

Approximately 10% of patients diagnosed clinically with early Parkinson's disease (PD) have normal dopaminergic functional imaging (Scans Without Evidence of Dopaminergic Deficit [SWEDDs]). An important subgroup of SWEDDs are those with asymmetric rest tremor resembling parkinsonian tremor. Clinical and pathophysiological features which could help to distinguish SWEDDs from PD have not been explored. We therefore studied clinical details including non‐motor symptoms in 25 tremulous SWEDDs patients in comparison to 25 tremor‐dominant PD patients. Blinded video rating was used to compare examination findings. Electrophysiological tremor parameters and also response to a cortical plasticity protocol using paired associative stimulation (PAS) was studied in 9 patients with SWEDDs, 9 with tremor‐dominant PD (with abnormal dopamine transporter single photon emission computed tomography findings), 8 with segmental dystonia, and 8 with essential tremor (ET). Despite clinical overlap, lack of true bradykinesia, presence of dystonia, and head tremor favored a diagnosis of SWEDDs, whereas re‐emergent tremor, true fatiguing or decrement, good response to dopaminergic drugs, and presence of non‐motor symptoms favored PD. A single tremor parameter could not differentiate between groups, but the combination of re‐emergent tremor and highest tremor amplitude at rest was characteristic of PD tremor. SWEDDs and segmental dystonia patients exhibited an abnormal exaggerated response to the PAS protocol, in contrast to a subnormal response in PD and a normal response in ET. We conclude that despite clinical overlap, there are features that can help to distinguish between PD and SWEDDs which may be useful in clinical practice. The underlying pathophysiology of SWEDDs differs from PD but has similarities with primary dystonia. © 2010 Movement Disorder Society     

Clinical and molecular genetic evaluation of patients with primary dystonia

Primary dystonia is a movement disorder characterized by involuntary and sustained muscle contractions causing twisting or abnormal postures and mutations in several genes have been identified. Our goal was to investigate, whether the clinical presentation would differ between patients with a positive family history, and patients without. Furthermore, we have performed mutation analysis in the subgroup of patients with a positive family history. A total of 175 patients with primary dystonia were evaluated. Data on gender, presence and frequency of pain and tremor, age of onset, and the distribution of affected body parts were compared between patients with positive and negative family history. All exons of the torsion dystonia 1, GTP cyclohydrolase 1 and epsilon-sarcoglycan genes were examined in 40 patients by SSCP analysis of PCR products followed by sequencing of variant conformers. Dystonia patients with a positive family history of dystonia had an earlier age of onset and those with a positive family history of tremor more often associated tremor than those with a negative family history. Four new polymorphisms in the epsilon-sarcoglycan gene were found and others confirmed, but no known or new mutations could be detected. Our study supports the notion that primary dystonia is a genetically heterogeneous disease.     

The phenotypic spectrum of DYT24 due to ANO3 mutations

Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia‐24 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos. Moreover, tremor recordings were performed, and back‐averaged electroencephalography, sensory evoked potentials, and C‐reflex studies were carried out in two individuals who carried two different mutations in ANO3. Ten patients from three families are described. The age at onset ranged from early childhood to the forties. Cervical dystonia was the most common site of onset followed by laryngeal dystonia. The characteristic feature in all affected individuals was the presence of tremor, which contrasts DYT24 from the typical DYT6 phenotype. Tremor was the sole initial manifestation in some individuals with ANO3 mutations, leading to misdiagnosis as essential tremor. Electrophysiology in two patients with two different mutations showed co‐contraction of antagonist muscles, confirming dystonia, and a 6‐Hz arm tremor at rest, which increased in amplitude during action. In one of the studied patients, clinically superimposed myoclonus was observed. The duration of the myoclonus was in the range of 250 msec at about 3 Hz, which is more consistent with subcortical myoclonus. In summary, ANO3 causes a varied phenotype of young‐onset or adult‐onset craniocervical dystonia with tremor and/or myoclonic jerks. Patients with familial cervical dystonia who also have myoclonus‐dystonia as well as patients with prominent tremor and mild dystonia should be tested for ANO3 mutations. © 2014 The Authors. Movement Disorders published by International Parkinson and Movement Disorder Society     

Comparing clinical features of young onset,middle onset and late onset Parkinson's disease

BackgroundParkinson's disease (PD) affects 1–2% of the population over 65 years. There is evidence that the clinical features differ with age at symptom onset, but published information is scarce.MethodsWe reviewed the charts of 593 PD patients and divided them into young onset (≤49 years), middle onset (50–69 years) and late onset (≥70 years) groups. Data collected included age at symptom onset, year of onset, family history of Parkinson's disease in first and second degree relatives, predominant first symptom, first anti parkinsonian medication prescribed, frequency of levodopa-induced dyskinesia, therapy related dystonia, therapy related gastrointestinal side effects, hallucination, dementia, depression and apathy.ResultsThe middle onset was the largest group (51%), followed by the late onset (39%) and the young onset (10%) groups. Young onset patients had a more frequent family history of Parkinson's disease and a longer survival. Symptoms other than tremor were more frequent as the initial symptom of the young onset group, and the frequency of tremor as the first symptom increased with advancing age at onset. Depression was more frequent in the young onset group. The frequency of treatment related dyskinesia or dystonia decreased with advancing age at onset.ConclusionWe have identified specific clinical differences in Parkinson's disease related to the patient's age at onset and added to the existing knowledge of the variability of disease presentation. We suggest an age of onset of 49 years or less for the definition of young onset PD.     

Orthostatic tremor: A review of 45 cases

ObjectiveTo evaluate the clinical characteristics, associated features, and treatment response of a large orthostatic tremor series seen over a 26-year period.MethodsWe reviewed the medical records of 45 patients seen between 1987 and 2013 who fulfilled the diagnostic criteria for orthostatic tremor.ResultsThe mean age at onset was 59.5 years and 23/45 (51%) were men. A family history of any tremor was noted in 23/45 (51%) patients. A family history of orthostatic tremor was reported in 3/45 (7%) patients. 40/45 (89%) had primary orthostatic tremor with (n = 30) or without (n = 10) an associated postural arm tremor. We found that 5/45 (11%) had orthostatic tremor plus additional neurological features. One patient was diagnosed with dementia with Lewy bodies preceded by orthostatic tremor for 20 years. Prospective follow-up data was available for 30/45 patients and averaged 54.4 months. Treatment response to medications was modest and inconsistent. In 11/30 cases, orthostatic tremor worsened over the follow-up period. One patient with primary orthostatic tremor underwent thalamic deep brain stimulation surgery.ConclusionsIn our population of orthostatic tremor patients, mild postural hand tremor was a frequent finding. Over half of our patients had a family history of tremor, but a family history of orthostatic tremor was uncommon. Additional neurological features were seen in the minority of patients and we report possibly the first case of dementia with Lewy bodies associated with orthostatic tremor. Our series is the largest series of orthostatic tremor reported in the literature and contributes to understanding the clinical characteristics of this rare disease.     

Facial tremor in dystonia

BackgroundTremor of the upper/middle part of the face, including the perinasal region and the forehead has been very rarely described in some patients with Parkinson's disease or Essential Tremor. It has not yet been reported in patients with idiopathic dystonia.MethodsWe describe here a series of 8 patients with common forms of idiopathic focal/segmental dystonia with tremor involving the upper/middle part of the face, along with demonstrative videos and electrophysiological recordings.ResultsThe distribution of the tremor was confined to the face in two patients, whereas in six patients tremor was also evident either in the head/lower part of the face or in their upper limbs. Electrophysiological recordings disclosed a slightly irregular tremor with a frequency at about 3–5 Hz.ConclusionsA number of patients with classical forms of dystonia can show a tremor involving the upper/middle part of the face.     

Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group

OBJECTIVES: Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out to deterrmine whether demographic features (sex, age at blepharospasm onset), putative risk, or protective factors for blepharospasm (family history of dystonia or tremor, previous head or face trauma with loss of consciousness, ocular diseases, and cigarette smoking), age related diseases (diabetes, hypertension), edentulousness, and neck or trunk trauma preceding the onset of blepharospasm could distinguish patients with blepharospasm who had spread of dystonia from those who did not. METHODS: 159 outpatients presenting initially with blepharospasm were selected in 16 Italian Institutions. There were 104 patients with focal blepharospasm (mean duration of disease 5.3 (SD 1.9) years) and 55 patients in whom segmental or multifocal dystonia developed (mainly in the cranial cervical area) 1.5 (1.2) years after the onset of blepharospasm. Information was obtained from a standardised questionnaire administered by medical interviewers. A Cox regression model was used to examine the relation between the investigated variables and spread. RESULTS: Previous head or face trauma with loss of consciousness, age at the onset of blepharospasm, and female sex were independently associated with an increased risk of spread. A significant association was not found between spread of dystonia and previous ocular diseases, hypertension, diabetes, neck or trunk trauma, edentulousness, cigarette smoking, and family history of dystonia or tremor. An unsatisfactory study power negatively influenced the validity and accuracy of the negative findings relative to diabetes, neck or trunk trauma, and cigarette smoking. CONCLUSIONS: The results of this exploratory study confirm that patients presenting initially with blepharospasm are most likely to experience some spread of dystonia within a few years of the onset of blepharospasm and suggest that head or face trauma with loss of consciousness preceding the onset, age at onset, and female sex may be relevant to spread. The suggested association between edentulousness and cranial cervical dystonia may be apparent because of the confounding effect of both age at onset and head or face trauma with loss of consciousness. The lack of influence of family history of dystonia on spread is consistent with previous findings indicating that the inheritance pattern is the same for focal and segmental blepharospasm.     

Quantification of sensory trick impact on tremor amplitude and frequency in 60 patients with head tremor.

Head tremor with an obvious head deviation is the typical clinical picture of tremulous cervical dystonia (TCD), whereas head tremor without any significant head deviation allows for the differential diagnosis of dystonic head tremor (DHT) as well as essential head tremor (EHT). Clinical and polyelectromyographic (poly-EMG) studies have shown a suppression of dystonic muscle activity in patients with TCD performing a maneuver called geste antagonistique. The effect of these trick maneuvers on head tremor has not been investigated in patients with DHT and EHT. We studied the impact of sensory trick maneuvers on head tremor amplitude and frequency clinically by using the tremor subscore of the Tsui scale and by means of computer-based accelerometry in 60 patients with head tremor as their major disorder. Based on clinical data (modified Tsui scale: rating of spontaneous head deviation [rotation + lateroflexion + ante-/retroflexion]), pharmacologic response of tremor (propranolol, primidone, or alcohol), family history (postural hand tremor in first-degree relatives), and poly-EMG findings (reciprocal inhibition in neck muscles during voluntary head rotation), 34 patients were diagnosed as having TCD, 14 were classified as having DHT, and 12 patients were diagnosed as having EHT. Using a clinical rating scale, head tremor amplitudes showed a significant decrease compared with baseline during the performance of sensory trick maneuvers in patients with TCD and DHT, but not in patients with EHT. This clinically observed effect was accompanied by a significant reduction in the mean peak power of the dominant frequency in patients with TCD (decrease by 83%, p = 0.0001) and DHT (decrease by 90%, p = 0.01), but not in patients with EHT (decrease by 6%, p = 0.6). Head tremor frequencies showed no significant changes in relation to the trick maneuvers. We conclude that a significant reduction of head tremor amplitude during a sensory trick maneuver is a useful quantitative criterion to distinguish TCD and DHT from EHT.     

Benign tremulous parkinsonism

BACKGROUND: Benign tremulous parkinsonism has never been precisely defined nor has the long-term course been studied. OBJECTIVE: To report the clinical features and longitudinal course of patients with benign tremulous parkinsonism encountered in our movement disorders practice. DESIGN: Computer search of medical records database. SETTING: Mayo Clinic, Rochester, Minn. PATIENTS: Of 116 patients identified, 16 (10 male and 6 female) had at least an 8-year history of this disease, had been examined by a senior movement disorders specialist, and had ultimately been diagnosed as having benign tremulous parkinsonism after an initial diagnosis of Parkinson disease (PD). INTERVENTIONS: None. MAIN OUTCOME MEASURES: Age at onset of disease, response to levodopa therapy, tremor characteristics, and family history. RESULTS: Mean disease duration was 11 years (range, 8-25 years) at last follow-up. Mean age at onset, 58.5 years, was younger than in most PD series, and most patients had a poor levodopa response (although levodopa trials were inadequate in some). A moderate to marked postural tremor was noted in 13 of the 16 patients, including 6 with a kinetic tremor. A family history of PD and/or tremor was reported in 10 (63%) of our patients. Three patients required thalamic deep brain surgery to treat their tremor. CONCLUSIONS: Benign tremulous parkinsonism may be a distinct clinical entity characterized by tremor predominance plus minimal progression of other aspects of parkinsonism. The tremor is often not very responsive to levodopa therapy. In this series, most patients had immediate family members with a diagnosis of tremor or PD.     

The entity of young onset primary cervical dystonia.

Primary cervical dystonia is typically an adult onset condition with symptom onset usually in the fifth and sixth decade. Young onset (<28 years) is uncommon. We report 76 patients with cervical dystonia as a presenting or predominant feature, with disease onset before the age of 28. Male to female ratio was 1.24:1 and the mean onset age was 21 (3-28) years. A family history of tremor and/or dystonia was noted in 26.3%. Depression and anxiety attacks were present in 23.7%.Prior injury or surgery involving the neck was noted in 17.1%. 23 (30.3%) experienced spontaneous partial or complete remissions within the first 5 years of onset, but all relapsed. Cervical dystonia was predominantly rotational torticollis. 30% developed extra-nuchal dystonia and tremor affecting contiguous parts but in only one there was spread to affect the legs. All 15 patients tested for the DYT1 gene were negative. 74% responded favorably to botulinum toxin injections, whereas none of the 13 patients treated with L-Dopa preparations had a beneficial response. The distinctive features of this entity are discussed.     

Cervical dystonia following peripheral trauma

Abstract. Post-traumatic cervical dystonia as a diagnostic entity remains a subject of debate. Patients with cervical dystonia (CD) were asked to identify any significant illness prior to the onset of their CD. Sixteen patients of 95 respondents reported a history of injury in the four-week period prior to onset of their dystonia. A retrospective study of the clinical characteristics of the 16 patients with early post-traumatic CD (CD-PT) in comparison with the 52 patients reporting no antecedent trauma (CD-NT) was performed. In this comparison the CD-PT group had a significantly increased frequency of laterocollis, significantly more reported pain and more reported depression. Non-significant trends were noted for less responsiveness to botulinum toxin and less use of gestes antagonistes in the CD-PT group. There were no group differences in the presence of a family history of dystonia. Eleven of the CD-PT group had been or were currently involved in litigation. A sub-group of seven CD-PT patients had laterocollis, six of whom conformed to a clinical pattern of persistent non-spasmodic laterocollis with marked pain; all seven had been involved in litigation. This form of CD-PT is a distinct clinical entity and has an onset within hours or a few days of the trauma. In contrast, no significant differences were noted between patients with CD-NT and the eight patients with later onset of CD between 4 weeks and one year after peripheral trauma.     

Neuropathological findings in benign tremulous Parkinsonism

Benign tremulous parkinsonism, a tremor dominant syndrome with a relatively slow rate of deterioration, is recognized by clinicians although its pathological basis is not well understood. A systematic review of Queen Square Brain Bank donors was carried out to determine the natural history and pathology of individuals who had tremor dominant parkinsonism with mild non‐tremor components and minimal gait disability for at least 8 years. We identified 16 cases of pathologically proved benign tremulous Parkinson's disease (PD); another 5 individuals conformed to the definition but did not have the pathology of PD. Patients with verified benign tremulous PD had less severe neuronal loss in the substantia nigra than controls (χ²: P = .003). Twelve of these had been correctly diagnosed with PD at their first neurological evaluation, whereas the other 4 were originally thought to have another tremor disorder. The only consistent distinguishing feature of the 5 pathologically disproved cases, who may have had either essential tremor with associated rest tremor or dystonic tremor, was a failure to develop unequivocal bradykinesia within a decade of onset of tremor at rest. Our findings support the existence of a distinct subgroup of benign tremulous PD. The slower rate of clinical progression correlates with less severe nigral cell loss at postmortem, although many of these patients transgress the benign tremulous parkinsonism definition by the final third of their disease course and develop the common features of advanced PD. © 2012 Movement Disorder Society