French validation of the Quality of life in Essential Tremor Questionnaire (QUEST) and the Essential Tremor Embarrassment Assessment (ETEA).

Two scales have been developed and validated in English to evaluate the impact of tremor on daily life, namely Quality of life in Essential Tremor Questionnaire (QUEST) and Essential Tremor Embarrassment Assessment (ETEA). The psychometric properties of the French version of these two scales were assessed for 117 patients with head tremor. Both scales showed excellent acceptability, very good internal consistency (Cronbach's alpha coefficient>0.8) and reproducibility (Lin concordance coefficient>0.8), satisfactory external validity and satisfactory sensitivity to change. In conclusion, the French versions of QUEST and ETEA are comprehensive, valid and reliable instruments for assessing patients with head tremor.

Diagnosis of primary hemifacial spasm.

The diagnosis of primary hemifacial spasm (pHFS), due to a benign compression of the facial motor nerve by a vessel, within or close to its root exit zone, is often made with delay. Misdiagnosis includes psychogenic spasm, tics, facial myokymia or blepharospasm, but in fact post-facial palsy synkinesis (post-paralytic HFS) is the closest clinical condition, because it is limited to the territory of the facial nerve of a single hemiface. The differential diagnosis between these two entities, whose pathophysiological mechanisms are very different, can be made by electroneuromyographic (ENMG) examination. In addition, magnetic resonance imaging (MRI) is essential to show the offending vessel at the origin of pHFS and the absence of other causes of nerve compression. However, the diagnosis cannot be made on MRI basis alone, since a neurovascular conflict can be present in clinically asymptomatic subjects. This article reviews the clinical, MRI, and ENMG features in favour of a pHFS diagnosis as well as the various differential diagnoses of this involuntary facial movement disorder.

TENS is harmful in primary writing tremor.

OBJECTIVE: It is unclear whether primary writing tremor (PWT) is a tremulous form of dystonia or a tremor per se. Transcutaneous electrical nerve stimulation (TENS) at 50 Hz applied for 2 weeks was reported to improve the writing capabilities of patients with writer's cramp (WC). We explored whether such a beneficial effect can be obtained in patients with a PWT. METHODS: In a cross-over, double-blinded randomized study we tested whether 2-week periods of 5, 25 or 50 Hz TENS applied to wrist flexor muscles, improved the score of the Fahn-Tolosa-Marin scale of nine patients with PWT. Excitability of neurons and of various intracortical circuits in the motor cortex were also tested before and after TENS by using transcranial magnetic stimulation. RESULTS: TENS at 5 and 25 Hz did not have any effect while TENS at 50 Hz worsened the clinical condition and the cortical excitability. CONCLUSIONS: TENS is not a new treatment alternative for PWT. SIGNIFICANCE: The beneficial effect in WC and the harmful one in PWT of TENS stresses that the two disorders are likely different nosological entities.

Case-control study of writer's cramp.

Task-specific focal dystonias are thought to be due to a combination of individual vulnerability and environmental factors. There are no case-control studies of risk factors for writer's cramp. We undertook a case-control study of 104 consecutive patients and matched controls to identify risk factors for the condition. We collected detailed data on medical history and writing history as part of hobbies or occupation. Cases had a college or university degree more frequently than controls [OR = 4.6 (1.3-20.5), P = 0.01]. The risk of writer's cramp increased with the time spent writing each day (P-trend = 0.001) and was also associated with an abrupt increase in the writing time during the year before onset (OR = 5.7, 95% CI = 1.3-33.9, P = 0.02). Head trauma with loss of consciousness [OR = 3.5 (1.0-15.7), P = 0.05] and myopia [OR = 4.1 (1.7-12.0), P = 0.0009] were both associated with the condition but it was not significantly associated with peripheral trauma, left-handedness, constrained writing, writing in stressful situations or the choice of writing tool. The dose-effect relationship between writer's cramp and the time spent handwriting each day, and the additional burden of acute triggers such as an abrupt increase in the writing time in the year before onset, point to a disruptive phenomenon in predisposed subjects. Homeostatic regulation of cortical plasticity may be overwhelmed, resulting in dystonia.

Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp.

BACKGROUND: Structural abnormalities were detected in bilateral primary sensorimotor areas in writer's cramp. Evidence in other primary dystonia, including blepharospasm and cervical dystonia, suggest that structural abnormalities may be observed in other brain areas such as the cerebellum in writer's cramp. OBJECTIVE: To test the hypothesis that structural abnormalities are present along the sensorimotor and cerebellar circuits in patients with writer's cramp. METHODS: Using voxel-based morphometry, the authors compared the brain structure of 30 right-handed patients with writer's cramp with that of 30 healthy control subjects matched for gender, age, and handedness. RESULTS: Gray matter decrease was found in the hand area of the left primary sensorimotor cortex, bilateral thalamus, and cerebellum (height threshold p < 0.01, cluster significant at p < 0.05 corrected for multiple comparisons). CONCLUSIONS: These results demonstrate in writer's cramp the presence of structural abnormalities in brain structures interconnected within the sensorimotor network including the cerebellum and the cortical representation of the affected hand. These abnormalities may be related to the pathophysiology of writer's cramp, questioning the role of the cerebellum, or to maladaptive plasticity in a task-related dystonia.

Disorganized somatotopy in the putamen of patients with focal hand dystonia.

OBJECTIVE: To explore the selectivity of neuronal somatotopic representation in the striatum of patients with unilateral task-specific dystonia of the right arm. MATERIALS AND METHODS: The authors used fMRI in 14 right-handed dystonic subjects to examine putaminal organization. Subjects performed flexion/extension of the right and left fingers and toes, and contraction of the lips. RESULTS: Compared to healthy volunteer subjects, dystonic subjects had altered somatotopic organization in the left putamen, contralateral to the affected hand. Disease severity correlated with underactivation and decreased distance between right hand and lip representations. In the right putamen, ipsilateral to the affected hand, the somatotopic organization was not altered but disease severity also correlated with reduced distances between limbs. CONCLUSION: In dystonia there may be a dedifferentiation of the normally segregated cortico-subcortical sensorimotor maps in the putamen, which may contribute to the loss of functional selectivity of muscle activity observed in these dystonic subjects.

Factors predicting improvement in motor disability in writer's cramp treated with botulinum toxin.

OBJECTIVE: To identify factors predicting improvement in motor disability in writer's cramp treated with botulinum toxin (BTX). METHODS: 47 patients with writer's cramp were treated with BTX and were evaluated by the same neurologists at initial referral, after each BTX injection, and when the effect of BTX was maximal at the time of the study. Patients and examiners simultaneously and independently rated the efficacy of BTX injections. Self assessment was a global clinical impression of the impact of treatment on writing quality, writing speed, writing errors, and legibility of handwriting; for objective assessment, the examiners used the Burke-Fahn-Marsden (BFM) scale. RESULTS: On the BFM scale, there was a significant improvement (p<0.0001) in both severity and disability scores. Patients with a pronation/flexion pattern of dystonia showed the best and the most sustained improvement. Primary writing tremor was little improved. There was a correlation between the self assessment score and the Burke-Fahn-Marsden score. Benefit was maintained over time CONCLUSIONS: These results have implications for the identification of patients most likely to benefit from BTX injections.

Candidate gene studies in focal dystonia.

BACKGROUND: Genetic susceptibility factors for focal idiopathic torsion dystonia (F-ITD) are not established. Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed. OBJECTIVE: To investigate a possible role of DYT1 polymorphisms, a CA repeat in the D5 receptor gene (DRD5), the human leukocyte antigen (HLA)-DRB locus, and four polymorphisms in the homocysteine metabolism in the pathogenesis of F-ITD. METHODS: Initially, 100 German patients and 100 matched control subjects were investigated. A second French population with 121 F-ITD patients and matched control subjects was also studied. RESULTS: Two polymorphisms of the beta-cystathionine synthase gene were associated with F-ITD in the German population, but this finding was not replicated in a second independent F-ITD patient and control group of French origin. None of the other investigated polymorphisms was associated with F-ITD. The authors failed to confirm a previously reported association with a polymorphism in DRD5. CONCLUSION: No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found.

[Movement disorders and botulinum toxin in neurology]. / Mouvements anormaux et toxine botulique en neurologie.

Botulinum toxin has been a useful treatment in many movement disorders and more recently in other non-neurological motor dysfunctions for more than 15 years. Here, we review the various indications in neurology, mainly in the field of movement disorders. From 1973 to 2002, we searched the Medline database on this topic. We selected the most useful and relevant papers, with a special interest in dystonia. We summarized the results in the main indications (spasmodic torticollis, bleparospasm, hemifacial spasm) and in other manifestations such as writer's cramp, oromandibular dystonia, tremor, tics and myoclonus. We discuss the data of literature and compare them with the experience of the French movement disorders groups.

[Cerebral amyloid angiopathy presenting as a pseudotumor: 2 cases with spontaneously favorable outcomes]. / Angiopathie amyloïde cérébrale à présentation pseudo-tumorale: 2 cas d'évolution spontanément favorable.

A rare clinical and radiographical presentation of cerebral amyloid angiopathy mimicking a brain neoplasm was observed in 2 patients. The signs and symptoms included seizures and focal parieto-occipital dysfunction in 1 case, massive left hemisphere dysfunction and akinetic mutism in the other. Brain CT and MRI showed nonspecific focal white matter abnormalities suggestive of the diagnosis of low-grade glioma. Gradient echo T1 and T2-weighted images showing multiple areas of signal void suggesting multiple disseminated petechial hemorrhages led to the diagnosis of cerebral amyloid angiopathy. An eventless brain biopsy confirmed the diagnosis. The neuropathology examination disclosed amyloid angiopathy of the pial and cortical vessels selectively stained by anti A-beta protein antibodies. The clinical course was remarkable in the two cases with almost complete clinical recovery without any particular treatment.

[Secondary dystonias. Clinical analysis and diagnostic approach]. / Dystonies secondaires. Analyse sémiologique et démarche diagnostique.

DEFINITIONS: Dystonia is a muscle contraction disorder marked by sustained involuntary clonic contortions or abnormal posture. Primary dystonias can be divided into familial forms related to genetic anomalies and idiopathic forms. Secondary dystonias are related to an underlying neurological disease. METABOLIC DISEASES: Secondary dystonias related to metabolic diseases generally occur early before puberty although late onset forms have been described. Other signs, in association with the dystonia, include mental retardation, epilepsy, cerebellous or pyramidal signs, oculomotor disorders, or a neuropathy. Occasionally, extraneurological signs suggest the diagnosis. Biological markers are known for most of these dystonias. EVENT-RELATED DISEASES: In some cases, the dystonia is the only sign and develops as a sequela to an earlier neurological event such as neonatal anoxia, trauma, vascular event or adverse effect of neuroleptics. HEMI-DYSTONIAS: Dystonias limited to one side are generally secondary.

[Bilateral intracranial subdural hematoma following lumbar puncture: report of a case]. / Hématome sous-dural intra-crânien bilatéral après ponction lombaire: un cas.

A chronic, bilateral, intra-cranial subdural hematoma was diagnosed in a 28 year old man. A standard diagnostic spinal tap had been performed 6 weeks before. There was no other etiologic factor. Intra-cranial subdural hematoma is a rare complication of either diagnostic, therapeutic, or accidental lumbar puncture. Extensive literature review disclosed the description of 49 other cases, including only 3 cases following a standard diagnostic lumbar puncture. Outcome was fatal in 9 of them. The possibility of an intra-cranial subdural hematoma has to be considered in case of prolonged or unusual headache following a lumbar puncture, even with a headache-free period, knowing the emergency of the surgical therapeutic procedure. The most likely mechanism is subdural venous bleeding induced by the chronic intracranial hypotension due to the persisting lumbar meningeal wound.

[Cerebral infarction disclosing neurocysticercosis]. / Infarctus cérébral révélateur d'une neurocysticercose.

An ischaemic stroke related to neurocysticercosis observed in the Paris neighbourhood is reported. A 32-year-old man originating from Cape Verde presented a left lacunar stroke. CT scan showed multiple areas of calcifications and a left capsulostriatal lucency. Gadolinium enhanced MRI disclosed significant abnormalities surrounding the left middle cerebral artery in the sylvian fissure. The titers of anticysticercian antibodies were highly positive in the serum and the CSF. The investigations in search of another cause of the stroke were negative. The outcome was good after a treatment associating albendazole and methylprednisolone. The increasingly recognized links between neurocysticercosis and stroke, especially in endemic areas are reviewed. Neurocysticercosis is an exceptional cause of ischaemic stroke in non endemic areas. In non-endemic areas, this cause of stroke has to be systematically suspected in patients coming from endemic areas. The diagnosis is based upon MRI, CT scanner and serologic tests. Treatment requires anti-parasitic drugs. The role of the corticosteroids is discussed.

[Neurocysticercosis disclosed by cerebrovascular complication]. / Neurocysticercose révélée par un accident vasculaire cérébral.

Cysticercosis in one of the most common parasitoses in the world but is rare in France. This is the case of a thirty two years old man who had a stroke which revealed a neurocysticercosis, the diagnosis of which appeared on CT-scan. MR-imaging gave a more precise topographical diagnosis of the cysticercosis lesions and allowed a physiopathological understanding of the stroke. The ischemic lesion in the lenticulostriate territory was due to cysts in the sylvian fissure at the level of the beginning of those arteries with a perilesional inflammatory reaction. We learned the link between cysticercosis and stroke studing the cases reported in the literature.