视神经脊髓炎谱系疾病临床特点分析及发病机制探讨

目的 分析视神经脊髓炎谱系疾病(Neuromyelitis optica spectrum disorders,NMOSDs)的临床特点,并探讨相关发病机制及诊治方案。方法 回顾性收集2018年6月-2019年12月入住本院神经内科并诊断为NMOSDs的患者56例,分析患者的一般人口学特征、临床表现、实验室及影像学检查表现、诊疗及预后等。结果 共纳入56例患者,男女比例为1:10.2,首次发病年龄20～77(48.36±14.52)岁,73.2%患者表现为急性-亚急性起病,62.5%患者以急性脊髓炎起病,21.4%患者以急性视神经炎起病,16.1%患者表现为最后区综合征。30例患者中22例脑脊液水通道蛋白-4(Aquaporin-4,AQP4)-IgG抗体阳性,2例髓鞘少突胶质细胞糖蛋白(Myelinoligodendrocyte glycoprotein,MOG)-IgG抗体阳性,颈髓多与延髓、胸髓合并受累,也可出现颅内病灶。结论 NMOSDs临床表现复杂多样,好发于中青年女性,复发率及致残率较高,首发症状以急性脊髓炎多见,以最后区综合征起病多易误诊。多数患者在发作急性期经过大剂量激素冲击治疗后预后良好,硫唑嘌呤、他克莫司、利妥昔单抗等免疫抑制剂仍是预防复发的一线药物。     

Temporal lobe involvement in multiple sclerosis patients with psychiatric disorders

Patients with multiple sclerosis (MS) frequently develop psychiatric disturbances. The clinical histories and magnetic resonance imaging results from eight patients with MS and psychiatric disorders were compared with those from eight control MS patients matched for age, sex, duration and severity of illness, and clinical course. Both groups had widespread lesions on the magnetic resonance imaging scans; however, the psychiatric group had more clinically defined sites of MS involvement, possibly indicating a difference in the biologic activity of the lesions in this group. The total lesion area was not different between the groups. However, the distribution of lesions did differ; the psychiatric group had significantly more temporal lobe involvement than the control group. These results indicate a role for the cerebral lesions themselves, particularly those in the temporal lobes, in the genesis of psychiatric disorders in MS.     

Comparisons of presentations and outcomes of neuromyelitis optica patients with and without Sjögren’s syndrome

Patients with neuromyelitis optica (NMO) often have an accompanying autoimmune disease, most commonly, but not limited to Sjögren’s syndrome (SS). The aim of this study was to compare clinical and laboratory features between NMO patients with and without SS and to investigate the prognosis of NMO in patients with and without SS. Twenty-three NMO patients with SS and 42 NMO patients without SS were included. Clinical and laboratory profiles were compared, including annual relapse rate and time from onset of NMO to Expanded Disability Status Scale (EDSS) scores of 4.0 and 6.0. More NMO patients with SS than those without SS had anti-nuclear antibody, anti-SS-A/Ro and anti-SS-B/La antibodies (91.3 vs. 35.7%, p < 0.001, 87.0 vs. 2.3%, p < 0.001, and 34.8 vs. 0.0%, p < 0.001, respectively). Serum immunoglobulins (IgA, IgM and IgG) were markedly increased in NMO patients with SS in comparison with those without SS. Annual relapse rate and the time from disease onset to an EDSS score of 4.0 and 6.0 were not significantly different between the two groups. No differences between the two groups were found for the other parameters, including AQP-4 antibody status, length of spinal cord lesion and brain lesions. These results imply that NMO in SS more likely represents coexistence with SS rather than representing the result of direct central nervous system involvement in SS. Autoimmune response appears to be more intense in the NMO group with SS, but did not cause a more severe prognosis in comparison with the group without SS, indicating that we should pay attention to the potential benefit of the antinuclear antibodies in NMO.     

Distinguishing features of psychogenic (functional) versus organic hemifacial spasm

Hemifacial spasm (HFS) is one of the most common presentations in patients with cranial psychogenic (functional) movement disorders (PMD). Medical records and videos of patients with PMD and HFS were reviewed to identify those with psychogenic HFS and to compare the phenomenology of psychogenic HFS with organic HFS. We identified 18 (9.8%) patients with psychogenic HFS from a cohort of 184 patients with PMDs. There were 14 (78%) women and 4 men, with a mean age at onset of 33 ± 13.5 years. These were compared with 37 consecutive patients with organic (primary) HFS. Patients with psychogenic HFS were significantly younger and had more frequently tonic muscle contractions, bilateral asynchronous hemifacial involvement, isolated lower facial involvement, downward deviation of the mouth’s angle, and lack of the “other Babinski sign” compared to those with organic HFS. Other features such as ipsilateral downward movements of the eyebrow; associated tremor, dystonia and hemi-masticatory spasms were more frequently observed in patients with psychogenic HFS but these differences did not reach statistical significance. Lack of other Babinski sign and tonic muscle contractions showed the highest sensitivity (1.00 and 0.87, respectively), whereas downward mouth’s angle deviation showed the highest specificity (1.00) for the diagnosis of psychogenic HFS. Besides other features such as suggestibility, distractibility, periods of unexplained improvements observed in most patients with PMDs, several clinical features, such as tonic muscle contractions, downward mouth’s angle deviation, predominant lower facial and bilateral involvement, may be helpful in distinguishing psychogenic from organic HFS.     

Combination of cyclosporine A with corticosteroids is effective for the treatment of neuromyelitis optica

Neuromyelitis optica (NMO) and associated NMO spectrum disorders (NMOSDs) are neuroinflammatory diseases that frequently result in severe neurological disabilities. The aim of this study was to explore additional treatment options for NMO/NMOSD patients who are seropositive for anti-aquaporin 4 (AQP4) antibodies. We retrospectively evaluated the efficacy of immunosuppressants for NMO/NMOSDs by reviewing the clinical records of 52 patients confirmed as seropositive for anti-AQP4 antibodies. Of the 52 patients, 26 (23 women, three men) had received at least one kind of immunosuppressant other than corticosteroids. After eliminating ineligible cases, we evaluated the following 24 treatments in 22 patients (20 women, two men) that used azathioprine (AZA) (n = 9), cyclophosphamide (n = 1), cyclosporine A (CyA) (n = 9), tacrolimus (n = 2), methotrexate (n = 1), and mizoribine (n = 2). Both AZA and CyA treatments allowed us to decrease the median dose of the coadministered prednisone without affecting the expanded disability severity scale scores. In patients with relapsing-remitting courses, the annual relapse rate decreased from 1.7 (1.2–2.7) to 0.47 (0.36–0.59) after AZA treatments (n = 6, P = 0.028), and also showed a significant decrease from 2.7 (1.8–4.3) to 0.38 (0–0.97) after CyA treatment (n = 8, P = 0.012). These results indicate that CyA as well as AZA may help stabilize the disease activity in NMO/NMOSD patients seropositive for anti-AQP4 antibodies. This is the first case series study demonstrating the efficacy of CyA for the treatment of NMO/NMOSDs.     

Diagnostic profiles of patients with late-onset Creutzfeldt–Jakob disease differ from those of younger Creutzfeldt–Jakob patients: a historical cohort study using data from the German National Reference Center

In contrast to other neurodegenerative diseases, sporadic Creutzfeldt–Jakob disease (sCJD) is rarely diagnosed in patients older than 75 years. Data describing the characteristics of sCJD in the very old are rare and inconclusive. Therefore, a historical cohort study was designed to evaluate clinical, cerebrospinal fluid (CSF), electroencephalography (EEG), and magnetic resonance imaging (MRI) features of this group. Patients older than 75 years identified via the German surveillance program from 2001 to 2012 (n = 73) were compared to a random subsample of sCJD patients younger than 75 (n = 73) from the same time period using an historical cohort design. Older patients showed a faster disease progression represented by an earlier point of diagnosis and a shorter survival time (p < 0.001). In the early stages of disease, older patients presented slightly more often with dementia (p = 0.127) or dysarthria (p = 0.238), whereas disorders of the extrapyramidal (p = 0.056) and visual system (p = 0.015) were more common in the younger group. Atypical MRI profiles such as MRI lesions restricted to one hemisphere (p < 0.001) or cortical lesions only (p = 0.258) were found more frequently in patients older than 75 years, whereas typical cortical and basal ganglia hyperintensities were more common in the younger group (p = 0.001). We demonstrated for the first time that patients with late-onset sCJD differ from younger sCJD patients with respect to MRI profiles and initial clinical presentation, but not among CSF markers. Misclassification of Creutzfeldt–Jakob disease cases in patients older than 75 years seems likely due to atypical clinical and radiological presentation. This might contribute to lower sCJD incidence rates in this age group.     

Hypothalamic abnormality in patients with inflammatory demyelinating disorders

Background: Hypothalamic lesions in neuromyelitis optica (NMO) patients might be more specific for NMO than multiple sclerosis (MS). However, this is controversial. Objective: To characterize clinical features of patients with inflammatory demyelinating disorders (IDDs) with visible hypothalamic lesions using magnetic resonance imaging (MRI). Methods: Patients with IDDs (n = 429) were recruited retrospectively. Results: Of 52 patients with hypothalamic images enrolled, 42 were positive for aquaporin-4 (AQP4) antibodies, including 28 patients with NMO, 6 with recurrent transverse myelitis, 3 with recurrent optic neuritis, and 5 with brainstem and brain syndrome. The remaining 10 patients were anti-AQP4-negative, including 3 with MS, 3 with acute disseminated encephalomyelitis, and 4 with other disorders. In the AQP4-positive group, manifestations, including ataxia, intractable hiccup and nausea, syndrome of inappropriate antidiuretic hormone secretion and encephalopathy were more frequent in those with hypothalamic lesions than those without. Cell counts of cerebrospinal fluid in patients with hypothalamic lesions differed from patients without lesions. Brain MRI abnormalities were more frequent in brainstem and hemisphere of the hypothalamic lesion group. Conclusions: Hypothalamic lesions were observed frequently in patients with AQP4 antibodies. Clinical manifestations and paraclinical features in AQP4-positive patients with hypothalamic lesions differed from those without lesions.     

Characteristics of hypertrophic pachymeningitis in patients with granulomatosis with polyangiitis

Hypertrophic pachymeningitis (HP) is an important neurologic complication of granulomatosis with polyangiitis (GPA, formerly Wegener’s granulomatosis). The aim of this study is to investigate the clinical features, radiological findings, and diagnostic pitfalls of GPA-related HP. A retrospective chart review was performed to screen patients diagnosed with GPA at Samsung Medical Center between 1997 and 2016. Neurologic manifestation, laboratory findings, neuroimaging data, and clinical course were evaluated in all patients. Characteristics of patients with HP were compared to those of patients without HP. Sixty-five patients with GPA were identified. Twenty-five of these patients had central nervous system involvement. HP (N = 9, 36%) was the second most common radiologic finding. Other neurologic findings included stroke (N = 7, 28%) and granulomatous disease (N = 10, 40%). Patients with HP had lower incidences of systemic manifestations (N = 2, 22.2% vs. N = 38, 67.9%, p = 0.013 in the lung and N = 1, 11.1% vs. N = 28, 50.0%, p = 0.030 in the kidney) than those without HP. Six patients with GPA-related HP were MPO-ANCA positive (66.7%) and two had PR3-ANCA (22.2%). Most of the patients with HP presented with headache (N = 8, 88.9%) at a rate that is similar to those of primary headache disorders (migraine, tension-type, and stabbing) and other secondary headache disorders (postural type and meningitis). Patients with HP rarely had neurologic deficits (N = 3, 37.5%). Different clinical or radiologic features may be observed in GPA-related HP. Early recognition and accurate diagnosis of GPA-related HP are needed in addition to neuroimaging findings.     

Posterior circulation involvement in pediatric and adult patients with moyamoya disease: a single center experience in 574 patients

The importance of the posterior cerebral artery (PCA) involvement in moyamoya disease has been highlighted in recent years. However, few studies compared the impact of PCA lesions in moyamoya disease between pediatric and adult patients. We conducted this study to summarize the clinical features of moyamoya patients with PCA lesions and describe the difference between pediatric and adult patients. We reviewed the records of 696 consecutive moyamoya vasculopathy patients from 2009 to 2015. The Suzuki and the Miyamoto stages were used to evaluate the steno-occlusive lesions of the anterior and posterior arteries. Clinical and radiographic features were compared between those with and without PCA involvement, also between pediatric and adult patients. A total of 574 angiograms (140 pediatrics and 434 adults) were reviewed. The prevalence of PCA steno-occlusion did not differ significantly between pediatric patients and adult patients (35.0% vs. 30.4%, P = 0.347). Pediatric patients had more advanced PCA stages compared to adult patients (P = 0.045). There was a significant correlation of the PCA angiographic stages with the ipsilateral internal carotid artery (ICA) stages, both in pediatrics and in adults (both P < 0.001). The frequency of ipsilateral cerebral infarction positively correlated with the advancement of PCA stages in adult patients (P < 0.001), but not significant in pediatric patients (P = 0.106). Pediatric patients tend to have more advanced PCA lesions than adult patients. The degree of PCA steno-occlusion positively correlates with the ipsilateral ICA stage, both in pediatrics and in adults.     

Characteristics and clinical correlates of white matter changes in brain magnetic resonance of migraine females

Objective

White matter hyperintensities (WMHs) were often found in migraine patients. The aim of study was to characterize WMHs, assess their prevalence, determine relationship to clinical symptoms and homocysteine levels in migraine females.

Neuromyelitis optica and non organ-specific autoimmunity

BACKGROUND: Neuromyelitis optica (NMO) is often associated with other clinical or serological markers of non-organ-specific autoimmunity. OBJECTIVE: To evaluate the relationship between NMO spectrum disorders (NMOSDs), including NMO, longitudinally extensive transverse myelitis, and recurrent optic neuritis, and autoimmune disease. We concentrated on the association with systemic lupus erythematosus (SLE), Sj?gren syndrome (SS), or serological evidence of these disorders, which commonly is a source of diagnostic confusion. DESIGN: Retrospective blinded serological survey. SETTING: Mayo Clinic College of Medicine, Rochester, and Centre Hospitalier Régional Universitaire de Lille. METHODS: Group 1 included 153 US patients with NMOSDs (78 with NMO and 75 with longitudinally extensive transverse myelitis) and 33 control subjects with SS/SLE. Group 2 included 30 French patients with SS/SLE, 14 with NMOSDs (6 with NMO, 6 with longitudinally extensive transverse myelitis, and 2 with recurrent optic neuritis), 16 without NMOSDs, and 4 with NMO without SS/SLE. RESULTS: For group 1, NMO-IgG was detected in 66.7%, antinuclear antibodies in 43.8%, and Sj?gren syndrome A (SSA) antibodies in 15.7% of patients with NMO and longitudinally extensive transverse myelitis. Five NMO-IgG-seropositive patients with NMOSDs had coexisting SLE, SS, or both. Antinuclear antibodies and SSA antibodies were more frequent in NMO-IgG-seropositive patients than in NMO-IgG-seronegative patients (P= .001). For group 2, NMO-IgG was detected in 5 of 14 patients (35.7%) with NMOSDs and SS/SLE and in 2 of 4 patients (50.0%) with NMO without SS/SLE (P= .59). We detected NMO-IgG only in patients with NMOSDs and not in 49 controls with SS/SLE but without optic neuritis or myelitis from the 2 cohorts (P= .01). CONCLUSION: Neuromyelitis optica spectrum disorders with seropositive findings for NMO-IgG occurring with SS/SLE or non-organ-specific autoantibodies is an indication of coexisting NMO rather than a vasculopathic or other complication of SS/SLE.     

Spectrum of patients with EMG features of polyradiculopathy without neuropathy

We reviewed the medical records of 233 patients having electrodiagnostic evidence of polyradiculopathy. Patients with polyneuropathy or incomplete diagnostic evaluation were excluded. A clinical diagnosis was secured in 92 of the 118 remaining patients. Patients were separated into three groups based upon the anatomic location of root involvement: extradural (55), intradural-extraaxial (23), and intraaxial (14). Collectively, patients with intradural-extraaxial disorders had earlier disease onset, shorter symptom duration, and a higher disability score compared with the intraaxial or extradural groups. Pain was an initial complaint in 50 of 55 patients with extradural lesions, 20 of 23 with intradural-extraaxial disease, but only in 4 of 14 with intraaxial involvement. CSF abnormalities and reduced compound muscle action potential amplitudes were more common in the intradural-extraaxial group. We conclude that the anatomic localization of root involvement in patients with polyradiculopathy can be suggested by a combination of clinical, laboratory, and electrodiagnostic features.     

The contribution of fast-FLAIR MRI for lesion detection in the brain of patients with systemic autoimmune diseases

Fast fluid-attenuated inversion recovery (fFLAIR) is more sensitive that conventional or fast spin echo T2-weighted magnetic resonance imaging (MRI) for detecting lesions in the brain of patients with ischemic, inflammatory, or demyelinating diseases of the CNS. We ¶investigated whether the use of fFLAIR also increases the sensitivity of brain MRI assessment in patients with systemic autoimmune disorders. Turbo spin echo (TSE) dual-echo and fFLAIR scans of the brain were obtained from patients affected by systemic lupus erythematosus (SLE) with (NSLE, n = 9) and without clinical CNS involvement (n = 15), Behçet disease (n = 5), Wegener granulomatosis (n = 9), and antiphospholipid antibody syndrome (n = 6). Brain hyperintense lesions were counted and classified according to their size and their location by two observers by consensual agreement. The total lesion volume was measured using a semiautomated technique for lesion segmentation on both TSE and fFLAIR scans. The imaging modalities showed brain hyperintense lesions in all 9 SLE patients with CNS involvement, 5 of 15 SLE patients without CNS involvement, 5 of 9 patients with Wegener granulomatosis, 1 of 5 with Behçet disease, and 3 of 6 with antiphospholipid antibody syndrome. ¶A total of 342 lesions were seen on both sequences; 88 were seen only on TSE and 54 only on fFLAIR scans. The average number of brain lesions per scan was higher on TSE than on fFLAIR, since significantly more discrete (P < 0.002) and small (P = 0.004) lesions were seen on TSE than on fFLAIR. The median total lesion volume, however, was similar on TSE and fFLAIR. Our study indicates that the use of fFLAIR does not improve the sensitivity of fast dual-echo MRI for detecting brain abnormalities in patients with systemic autoimmune disorders.     

Increasing the sensitivity of MRI for the detection of multiple sclerosis lesions by long axial coverage of the spinal cord: a prospective study in 119 patients

Diagnostic imaging criteria of multiple sclerosis (MS) include the spatial and temporal dissemination of cerebral and/or spinal cord lesions. Magnetic resonance imaging (MRI) is the method of choice for initial diagnosis and follow-up disease monitoring. Current guidelines for spinal MRI recommend sagittal imaging of the spinal cord and lesion confirmation on axial planes if lesions are detected. Sagittal imaging is, however, hampered by technical (e.g. partial volume effects, motion artifacts) and anatomical (e.g. scoliosis) limitations. We hypothesized that long coverage of the spinal cord by axial image acquisition has superior diagnostic performance compared to sagittal imaging and can identify otherwise undetected lesions. Our prospective clinical study included 119 MS patients. Axial MRI revealed ~2.5-fold more lesions than the sagittal angulation (axial lesion load: 4.0 ± 2.4 vs. 1.6 ± 1.2 lesions on sagittal planes, p < 0.001). Importantly, 20 patients (17%) with normal sagittal MRI scans had unequivocal lesions only visible on axial planes (mean lesion number on axial planes in these patients: 2.0 ± 1.3). Moreover, 45 patients (38%) showed a discrepancy of ≥3 lesions that were found additionally on axial scans (mean difference 4.4 ± 1.7). Additionally identified lesions were on average smaller in size and located more laterally within the spinal cord. No lesion on sagittal images was missed on the axial angulation. Our study demonstrates that imaging of small axial segments for lesion confirmation is insufficient in spinal imaging. We recommend implementing a long coverage axial MRI sequence for spinal imaging of MS patients.     

Clinical,radiological and neurophysiological spectrum of JEV encephalitis and other non-specific encephalitis during post-monsoon period in India

AIMS: To study the spectrum of encephalitis during the post-monsoon period in a tertiary care centre of India. METHODS: Clinical, neurophysiological and radiological features of patients with encephalitis are reported in this communication. The patients were subjected to clinical examination, CT or MRI scan, EEG, motor and somatosensory evoked potentials in both upper and lower limbs bilaterally and concentric needle electromyography. The laboratory studies for Japanese encephalitis (JE) comprised virus isolated, IgM capture ELISA, mercaptoethanol test and hemagglutination inhibition titre in paired sera against JE virus. Patients were classified into JEV encephalitis and non-specific encephalitis. On the basis of radiological features, they were classified into group I (thalamic or basal ganglia involvement), group II (brainstem involvement only) and group III (normal MRI). The outcome was defined into poor (bedridden), partial (dependent for daily activities) and complete (independent) recovery at the end of 3 months. RESULTS: Out of 26 patients (Age 7-70 years, mean 24.8 years), laboratory evidences of JEV infection was present in 14 patients and one patient had herpes simplex encephalitis. The patients with JEV encephalitis had more severe illness as evidenced by lower GCS score, higher frequency of anterior horn cell involvement, movement disorders and more extensive MRI changes. The EEG and MEP changes were also more frequently abnormal in the JEV group. On radiology, 15 patients had thalamic or basal ganglia involvement (group I), 3 isolated midbrain involvement (group II) and 8 had normal MRI (group III). Laboratory evidence consistent with JE were present in 11 out of 12 patients in group I and 3 out of 8 in group III, however, there was no laboratory evidence of JE virus infection in patients with isolated brainstem involvement. There was overlap in the neurologic and systemic manifestations in all the 3 radiological groups as well as in the groups with and without laboratory evidences of JEV infection. CONCLUSION: The observed overlap in neurological and systemic involvement in different subgroups of encephalitis may be due to JE or JE-like viral infection. The possibility of strain variation, change in virulence of organism or immunity of host needs further studies.     

Natural course of positional down-beating nystagmus of peripheral origin

The aim of this study was to assess the natural course of positional down-beating nystagmus (pDBN) and vertigo in patients with no evidence of central nervous system involvement and of presumed peripheral origin. Fifty-three patients with pDBN had a complete otoneurological examination. All subjects, apart from three (excluded from the study), showed no additional neurological signs and normal brain imaging. Patients were randomly assigned to two groups: with or without treatment with exercise. Patients were seen again after 24 h, and then weekly for up to 6 months. Forty-seven patients (94 %) showed pDBN in the straight head-hanging position and in a Dix–Hallpike position. A torsional component was detected in 17 patients (34 %). The mean latency and duration of pDBN was 4.7 ± 5 s and 40.1 ± 22 s, respectively. After 2 weeks, only 12 patients (24 %) still had pDBN and all but one patient had recovered by 1 month. Twenty patients (40 %) were diagnosed with a typical posterior canal benign paroxysmal positional vertigo (PC BPPV) before or after pDBN. This study assessed for the first time the natural course of presumed peripheral pDBN, which was characterized by a spontaneous remission in 24 patients in the first week and in 49 patients within 4 weeks. pDBN is much more common than previously suggested, with about the same frequency as lateral canal BPPV. Furthermore, the clinical characteristics of pDBN have been highlighted, as well as its possible relationship to PC BPPV.     

Vestibular migraine patients are more anxious than migraine patients without vestibular symptoms

The link between vertigo and anxiety is well known. The aim of this study is to compare anxiety disorders in 3 groups: patients with vestibular migraine (VM), patients with migraine but without vertigo (MO) and healthy controls (HC).We performed cross-sectional analysis of following tests: (a) Hamilton Anxiety Rating Scale (HAMA); (b) State-Trait Anxiety Inventory (STAI-X1 and STAI-X2); (c) Beck Depression Inventory (BDI); (d) Panic–Agoraphobic Scale and (e) Penn State Worry Questionnaire (PSWQ). ANOVA, Kruskal–Wallis and Chi-square tests were used for comparisons and least significant difference was used for further post-hoc analysis. There were 35 definite VM patients, 31 MO patients and 32 volunteer HC. There were no significant differences between three groups in age, total years of education or duration of headaches in VM and MO patients. On the other hand, vertigo severity  was moderately and positively correlated with headache severity and with headache duration. There were significant differences in scores of HARS, BDI, PSWQ, and various PAS-R sub-scales between the three groups. Our study shows that VM patients are significantly more anxious and agoraphobic than MO patients and HC, displaying higher sensitivity to separation and being more prone to seeking medical reassurance.     

The thalamic ultrastructural abnormalities in paroxysmal kinesigenic choreoathetosis: a diffusion tensor imaging study

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare neurologic disorder. There are not apparent morphological changes in patients with idiopathic PKC. The purpose of this study is to determine whether ultrastructural changes are in the brain of patients with idiopathic PKC using diffusion tensor imaging. From May 2007 to August 2008, seven patients with idiopathic PKC were included. The mean age at initial onset was 11.7 ± 3.1 (range 8–17) years, and the mean disease duration was 6.9 ± 5.1 (range 1–14) years. Seven subjects of an age- and sex-matched control group were recruited. DTI data were obtained with a 3-T scanner. Fractional anisotropy (FA) and mean diffusivity (MD) were obtained in eight brain regions of interest. Patients with idiopathic PKC had significantly higher FA values than controls in the right thalamus (P < 0.05 Bonferroni corrected). Patients also had lower MD values than controls in the left thalamus (P < 0.05 Bonferroni corrected). FA and MD values were not significantly correlated with age of onset, gender, frequency of attack and duration of the disease. The results showed that in patients with idiopathic PKC, diffusion tensor imaging discloses distinct ultrastructural abnormalities in the thalamus. DTI is a sensitive neuroradiologic technique for detecting cerebral alterations in patients even without visible lesions on conventional MRI.     

Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy

A distinct polyneuropathy (PNP) syndrome affects up to 66 % of patients with neurofibromatosis II (NF2). Whether this is primarily a diffuse PNP or due to single, surgically amenable mass lesions has not yet been conclusively demonstrated. We aimed to solve this question by investigating the pathomorphological MR imaging correlate of this rare disorder. Eight patients with NF2-PNP were characterized by clinical examination, electrophysiological studies, and genetic analysis. All patients additionally underwent extended peripheral nerve imaging by a novel protocol of large-coverage high-resolution MRI. Quantitative analyses were performed by separately evaluating cross-sectional images, and by categorizing lesions into non-compressive fascicular microlesions (<2 mm), intermediate lesions (2–5 mm), and compressive macrolesions (>5 mm). The predominant imaging findings were non-compressive fascicular microlesions and intermediate lesions. Proximal-to-distal cumulative lesion burden of these lesions correlated strongly with the severity of clinical symptoms of NF2-PNP. In contrast, compressive macrolesions were not found at all in several symptomatic extremities. We conclude that proximal-to-distal accumulation of non-compressive fascicular lesions instead of compressive mass lesions predominantly underlies the clinical manifestation and severity of NF2-associated PNP. Diagnostic management may now be assisted by large-coverage high-resolution imaging of plexus and peripheral nerves. Additionally, the results underscore the feasibility of this new method, which may open up new diagnostic and investigative possibilities for other disseminated disorders of the peripheral nervous system.     

Occurrence of neuropathies in patients with severe heart failure before and after heart transplantation

Neuropathies may affect heart reinnervation and functional outcome after heart transplantation (HT). In this study, neurological evaluations, standard nerve conduction studies, and electromyography were performed in 32 HT candidates without a previous history of neuromuscular disorder. Ten patients underwent HT and were revaluated 3 months later. We found that before HT 10 (31.3 %) patients had sensorimotor polyneuropathy (18.8 %) or sensory polyneuropathy (12.5 %). After HT, the percentage of patients with a neuromuscular disorder increased to 70 %, most of them showing new or worsening neuropathies or neuromyopathies. The most sensitive abnormality that indicated neuromuscular involvement after HT was a reduction of the compound muscle action potential (CMAP) of the deep peroneal nerve. In conclusion, neuromuscular disorders are common in HT candidates, and they further increase in occurrence after HT. A reduction of the deep peroneal nerve CMAP amplitude after HT may help to identify patients who need a more detailed neurophysiological evaluation. The diagnosis of neuromuscular disorders before and after HT may contribute to the development of more accurate therapeutic and rehabilitative strategies for these patients.