Familial dystonia: a case of idiopathic torsion dystonia]

A 43 year old man suffered from the involuntary movements since 10-th year of age. Those movements, initially mild, have progressed in the course of the disease. In the neurological examination the dystonic involuntary movements of the neck, trunk and limbs, more expressed on the right side, were observed. The laboratory findings were normal, except the level of dopamine beta-hydroxylase, which was increased. Similar results were observed also in the closest relatives of our patient. After the treatment with high doses of L-Dopa we achieved a considerable decrease of the symptoms.     

Paroxysmal exercise-induced dystonia: Eight new sporadic cases and a review of the literature

We report eight new sporadic cases of paroxysmal dystonia induced by prolonged or sustained exercise and review an additional seven previously reported cases. The attacks in our patients lasted from a few minutes to up to 2 h, and patient age at onset ranged from 2 to 30 years. Four of the eight patients had hemidystonic attacks, both legs were involved in two other cases, and the remaining two patients had involvement of the right foot only. We propose that such cases should be classified as paroxysmal exercise-induced dystonia.     

Post-traumatic paroxysmal exercise-induced dystonia: case report and review of the literature

A young Chinese man sustained a back injury in a motorcycle accident in 2000 and had left lower limb weakness due to a lumbosacral plexopathy, diagnosed clinically and electromyographically. With rehabilitation, he recovered full function, but developed paroxysmal dystonia of the left leg only with prolonged exertion. He responded well to oral baclofen, relapsed when he stopped taking it, and remains well on low dose maintenance therapy. Dystonia occurring after trauma is well documented, but paroxysmal exercise-induced dystonia occurring after trauma has yet to be described. Paroxysmal exercise-induced dystonia responds variably to anticonvulsant therapy, but the literature does not report response to baclofen, especially in low doses.     

Sporadic paroxysmal exercise induced dystonia: report of a case and review of the literature

Sporadic paroxysmal exercise induced dystonia (PEID) is a rare condition. So far only fifteen cases have been reported in the world literature. It is characterised by dystonic posture on prolonged exercise, which gets relieved with rest. In general, these are refractory to medical treatment. We report one such case, along with review of the literature. The lower limbs were spared and only right shoulder was tucked up with the head turning to right side. The duration of exercise necessary to bring out the dystonic posture gradually diminished with time, a feature not reported previously.     

Cervical dystonia in monozygotic twins: case report and review of the literature.

We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second-born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia.     

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.

To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms.     

Quantitative evaluation of the effects of L-dopa in torsion dystonia: a case report

We used electrophysiologic methods in the diagnosis of torsion dystonia and the evaluation of therapy in a 7-year-old child. Electromyographic (EMG) activity patterns in five leg muscles were recorded during specific voluntary and passive movements as well as during gait. We found patterns of coactivation in leg muscles in walking or isolated movements, and a shortening reaction was seen in the tibialis anterior. These findings in combination with clinical observations led to the diagnosis of torsion dystonia and the choice of L-dopa therapy. Beneficial effects of therapy were assessed by the same methods.     

Autosomal recessive, DYT2-like primary torsion dystonia: a new family

The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.     

GCH1基因新的点突变的多巴反应性肌张力障碍1例报道并文献复习

目的 报道1例多巴反应性肌张力障碍(Doparesponsive dystonia, DRD)的三磷酸鸟苷环化水解酶I基因(Guanosine triphosphate cyclohydmlase I,GCH1)c.550C>T(p.R184C)杂合突变,并分析该基因突变患者的临床特点。方法 应用全外显子测序结合一代测序验证方法对1个家系的5名成员进行GCH1基因突变分析,并回顾既往文献进行疾病特点总结,以提高对DRD相关基因突变的临床特点及预后的认识。结果 5名家系成员中先证者及其一子一女 GCH1基因存在c.550C>T(p.R184C)杂合突变,且该点突变导致GCH1基因所编码的蛋白发生p.R184C错义突变(184位点上的精氨酸变为半胱氨酸)。软件分析显示c.550C>T(p.R184C)为可疑致病突变。结论 c.550C>T(p.R184C)突变可能是DRD新的致病位点,此分析扩展了DRD的GCH1基因突变内容,同时也为相关基因的功能验证提供了新的方向。     

The effectiveness of physiotherapy for cervical dystonia: a systematic literature review

Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended first line treatment is botulinum toxin type A (BoNT/A) injections. Physiotherapy is a potentially useful adjuvant, but little is known about its effectiveness. Consequently, our objective was to investigate the effectiveness of physiotherapy alone or as an adjuvant treatment to BoNT/A injections in cervical dystonia (CD) by means of a systematic literature review. Two online databases, PubMed and Web of Science, were searched for articles describing the effectiveness of physiotherapy treatment for CD. After screening, based on predefined in- and exclusion criteria, 16 studies were retained. Their methodological quality was assessed according to Cochrane guidelines. The methodological quality of most studies was low. Examples of shortcomings are small sample sizes, lack of randomization or blinding, and diversity in therapeutic techniques and outcome measures. Only seven studies were clinical trials; the remaining were either case reports or case series. The reported physiotherapy treatments included EMG biofeedback training, muscular elongation, postural exercises and electrotherapy. Improvements in head position, pain, cervical range of motion, quality of life and ADL have been reported, which is promising. Cautious interpretation on the effectiveness of physiotherapy as an adjuvant therapy is required. Before firm conclusions can be drawn, additional high quality trials are needed.     

Epilepsy and trimethylaminuria: A new case report and literature review

Trimethylaminuria is a metabolic disorder characterized by the excessive excretion of trimethylamine in bodily secretions, which confers a very unpleasant odour resembling that of dead fish. Literature reports only two cases affected by trimethylaminuria and epilepsy. We describe a third patient who, from the age of seven, was affected by temporal focal seizures with nocturnal episodes of nausea, vomiting, anxiety and autonomic activation followed by headache. EEG showed focal paroxysmal abnormalities prevailing on the right temporo-parieto-occipital regions. We began administering levetiracetam and seizures stopped. Our patient also showed learning disabilities despite a normal intelligence quotient (IQ), while another described patient had an IQ varying from borderline to mild mental retardation. We discuss the association between trimethylaminuria and epilepsy, and formulate some hypotheses on the relationship between trimethylamine convulsive effect and the anticonvulsive role of levetiracetam.     

Sleep spindles in torsion dystonia

Quantitative analysis of overnight sleep spindles was performed in 14 patients with primary generalized torsion dystonia, 10 patients with secondary torsion dystonia, 10 normal subjects, and 39 patients with other neurological disorders. Only 4 patients with torsion dystonia had increased numbers of sleep spindles, and only one of these had sleep spindles of an abnormal amplitude or duration. Sleep spindle abnormalities do not appear to be common in torsion dystonia, and are unlikely to be of pathophysiological significance in this condition.     

COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature

BackgroundStill, the genetic basis of a large number of cases of early-onset isolated dystonia continues to be a mystery. In recent years, many new candidate genes are being identified as putative pathogenic factors in children with isolated dystonia due to the easy availability of whole-exome sequencing. Recently biallelic mutations in the COL6A3 gene were identified as a cause of rare dystonia (DYT)-27 syndrome. Till date, only six cases of DYT27 have been reported in the literature.MethodsWe report a new case of COL6A3 mutation associated early-onset isolated dystonia-DYT27. We did a review of the previously published cases of DYT27. Citations were identified through PubMed, Embase, Web of Science and Google scholar searches using the search terms (including variations), “Dystonia-27 or DYT27” or/and “COL6A3 mutation associated early-onset isolated dystonia”, combined with study filters for original research, case reports and case series.ResultsNext-generation sequencing in the index patient revealed two pathogenic compound heterozygous loss of function mutations in exon 10 and exon 12 of the COL6A3 gene coding for the alpha(α)3(VI) chain of type VI collagen. Together with the presented case, seven cases (five males) were available for analysis. The median age at onset was 22 years (range: 6–61). Dystonic symptoms were started from hands in five and from the neck in the remaining two patients. Five patients had favorable outcomes with trihexyphenidyl and botulinum toxin while tetrabenazine and levodopa were ineffective.ConclusionsAlthough it is a new entity that is only recently discovered, in future years many more new cases suffering from this particular entity are likely to be reported and the already heterogeneous clinical spectrum is likely to be further widespread in years to come.     

Cognitive rehabilitation in multiple sclerosis: a review of the literature

Introduction

Cognitive impairment is now well-known in multiple sclerosis (MS). However, few rehabilitation interventions are proposed or really efficient.

Objectives

To present a review of cognitive rehabilitation intervention research conducted in people with multiple sclerosis (MS), regarding different findings about episodic memory, working memory, attention and executive function disorders in MS.

Data sources

A search of Medline (yield 20 papers) and of PsychInfo (yield 1 article), using combinations of the following terms: cognitive rehabilitation, multiple sclerosis, cognitive therapy, neuropsychological rehabilitation, in the title or in the abstract, from 1960 to March 2010, excluding animal studies.

Results

Episodic memory rehabilitation studies appear to be promising. Programs on working memory, attention and executive functions are in the very early phases.

Conclusions

Results are encouraging and allow specific recommendations for future research about: (1) inclusion criteria, often not defined, (2) a specific baseline adapted to the program of rehabilitation, (3) a control measure regarding program efficiency and (4) a role for the psychologist (presence and advice during the program).     

BH4-sensitive hyperphenylalaninemia: new case and review of literature

We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters in cerebrospinal fluid, as well as pterines in urine were all normal. Mutation analysis revealed compound-heterozygosity for the mutations R408W and K320N. Under BH(4)-supplementation without a specific phenylalanine-reduced diet, phenylalanine-concentrations are in the therapeutic range and our patient developed normally.     

Solitary olfactory schwannoma without olfactory dysfunction: a new case report and literature review

Schwannomas are rare and seldom extend into the anterior cranial fossa. Herein, we report a case of schwannoma arising from the olfactory groove in a 16-year-old girl who presented with generalized seizures without olfactory dysfunction or other neurologic deficits. Computerized tomography (CT) scan showed a large mass with abundant calcification located in the olfactory groove, which was confirmed as a schwannoma by histology and totally resected via basal subfrontal approach. The presentation, imaging findings and histogenesis of the tumor are discussed along with a review of the pertinent literature.