The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) is a rare neurodegenerative disorder with marked anticipation. We have mapped the ADCA type II locus to chromosome 3 by linkage analysis in a genome-wide search and found no evidence for genetic heterogeneity among four families of different geographic origins. Haplotype reconstruction initially restricted the locus to the 33 cM interval flanked by D3S1300 and D3S1276 located at 3p12-p21.1. Combined multipoint analysis, using the Zmax-1 method, further reduced the candidate interval to an 8 cM region around D3S1285. Our results show that ADCA type II is a genetically homogenous disorder, independent of the heterogeneous group of type I cerebellar ataxias.

[Cerebral venous thrombosis and acute polyradiculoneuritis revealing systemic lupus erythematosus]. / Thrombose veineuse cérébrale et polyradiculonévrite aiguë révélant un lupus érythémateux disséminé

INTRODUCTION: Neurological manifestations of systemic lupus erythematosus are frequent and polymorphic. In 40% of cases, lupus can be revealed by neurological symptoms. Cerebral nervous system complications predominate and can be a negative factor for prognosis. Peripheral features are rare and various and can compromise functional prognosis, sometimes with fatal outcome. CASE REPORT: We report the case of a 30-year-old woman who presented a cerebral venous thrombosis of the superior longitudinal sinus. Outcome was favorable with antibiotics and anticoagulants. Four months later, she developed an acute polyradiculoneuritis associated with an inflammatory syndrome and positive tests for antinuclear antibody and antinuclear anti-DNA. The diagnosis of neurolupus was retained on the basis of four criteria of the American college of Rheumatology. The patient was given steroid therapy associated with a course of intravenous immunoglobulin. She has fully recovered her deficit. CONCLUSION: Cerebral venous thrombosis and acute polyradiculonévrites are rare events in systemic lupus erythematosus. Early diagnosis and management are crucial.

[A report of 9 cases of neurosarcoidosis]. / Neurosarcoïdose. Etude de neuf cas.

INTRODUCTION: Neurological involvement in sarcoidosis is rare and highly variable. To date, no consensus was reached about the diagnosis approach. We report a case series of 9 patients with neuosarcoidosis, with favorable outcome under therapy. MATERIALS AND METHODS: We examined a case series of 9 patients with neurosarcoidosis. Clinical, radiological, therapeutic features and outcome were studied. RESULTS: Six of the nine patients were females. Patients' age ranged from 31 to 70 years. Initial neurological symptoms lead to the diagnosis of systemic sarcoidosis in all patients. Central nervous system involvement was found in 77 percent with cranial nerve involvement in 55 percent. Twenty-three percent of patients presented with peripheral neuropathy and 33 percent with meningitis. The diagnosis was definite in 2 patients, probable in one and possible in six others. All patients were given steroid therapy. Total remission was obtained in three and partial remission in three. Three patients remained stable and one died. CONCLUSION: Histological signs are not constant in neurosarcoidosis. The lack of these signs should lead the physician to search for latent extraneurological symptoms which are suggestive of the diagnosis. Nervous biopsy can thus be avoided.

[Neurological manifestations of xeroderma pigmentosum]. / Les manifestations neurologiques du xeroderma pigmentosum.

Xeroderma pigmentosum is a genodermatosis with neurological manifestations in approximately 18p. 100 of cases. Polymorphous and variably associated signs are observed, progressing with the clinical course. The etiology of the neurological breach remains unknown. We report two siblings who had xeroderma pigmentosum with intellectual deficiency, a pyramidal, cerebellar and cordonal syndrome, ophthalmoplegia, and axonal peripheral neuropathy. We discuss the epidemiological, clinical and electrophysiological aspects of the neurological breach in xeroderma pigmentosum.

[Association of amyotrophic lateral sclerosis with scleroderma. Study of 2 cases]. / Association sclérose latérale amyotrophique et sclérodermie. Etude de 2 cas.

We report a clinical association of diffuse scleroderma and amyotrophic lateral sclerosis (ALS) in two patients. Scleroderma was diagnosed on skin, digestive, osteoarticular, pulmonary lesions and inflammatory syndrome. ALS was suspected on the association of diffuse amyotrophy, fasciculations, pyramidal tract involvement and electrophysiological data. Chronic medulla ischemia and or immune abnormalities are proposed as potential pathological mechanisms for ALS but fortuitous association can not be excluded.

[Bilateral optic neuritis and ponto-mesencephalic involvement shown by MRI in Miller-Fisher syndrome]. / Névrite optique bilatérale et atteinte ponto-mésencéphalique à l'IRM au cours d'un syndrome de Miller-Fisher.

We report a case of Miller-Fisher syndrome with ophthalmoplegia, ataxia and areflexia. The main characteristics of this case were bilateral optic neuropathy and ponto-mesencephalic abnormalities on MRI. This case confirms the possible central neurologic localisation in this rare syndrome.

[Neurologic complications of varicella in adults]. / Les complications neurologiques de la varicelle chez l'adulte.

Three patients aged 32, 30 and 36 years, had chicken pox then developed acute cerebellar ataxia (for two) and acute polyradiculoneuritis. Cerebrospinal fluid (CSF) protein content was increased and varicella virus serology was positive in both blood and CSF. All three patients improved with aciclovir.

[Idiopathic hypereosinophilic syndrome presenting with oculomotor paresis]. / Paralysie oculomotrice révélant un syndrome hyperéosinophilique essentiel.

A 42-year-old patient with a known depressive syndrome developed diplopia. The neurological examination revealed a peripheral neurogenic syndrome with incoordination of the left arm. Biological and radiological findings were in agreement with the diagnosis of idiopathic hypereosinophilic syndrome. Treatment with corticosteroids was effective.

[Neuro-Behcet's syndrome and thrombosis of Rosenthal's basilar vein: a report of twelve cases]. / Thrombose de la veine basilaire de Rosenthal et angio-Behçet cérébral. Etude de 12 cas.

INTRODUCTION: Deep cerebral vein thrombosis is a specific clinical pattern of neuroBehçet. The clinical features of ischemic stroke by Rosenthal or internal cephalic vein thrombosis predominate. METHOD: A retrospective analysis of twelve cases of Rosenthal vein thrombosis revealing Behçet disease were analyzed. These cases accounted for one-quarter of the NeuroBehçet patients treated in our unit. RESULTS: The typical pattern of Rosenthal vein thrombosis clinical was present in all patients who developed a diencephalo-mesencephalic syndrome. CONCLUSION: The clinical presentation is highly suggestive of diagnosis confirmed by imaging. Outcome is favorable with corticosteroids and anticoagulation.

[Cavernous sarcoid granuloma of the skull base: a case report]. / Granulome sarcoïdien de la loge sphéno-caverneuse.

A case of cavernous sarcoid granuloma, revealed by a slit sphenoidal syndrome is reported. Brain MRI showed a cavernous pseudo-tumoral lesion. The diagnosis of sarcoidosis was confirmed by the epithelioid and giant-cell granuloma without caseous necrosis found at hepatic biopsy. Outcome was favorable with corticosteroid therapy alone.

[Sneddon's syndrome: 4 cases and a review of the literature]. / Le syndrome de Sneddon: 4 cas et revue de la littérature.

Sneddon syndrome is an association of livedo racemosa and cerebrovascular ischemic events generally occurring in young adults. This is an uncommon chronic progressive arterio-occlusive disorder of unknown cause involving small and medium sized vessels. We report four cases. One case was disclosed by cerebral hemorrhage. One pathogenic hypothesis suggests the involvement of an idiopathic progressive inflammatory arteriopathy or secondary thrombotic disorder comparable with antiphospholipid syndrome.

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Autosomal-dominant cerebellar ataxia (ADCA) type II is a neurodegenerative disorder presenting with cerebellar ataxia and retinal degeneration. We analyzed the clinical features of 21 patients with ADCA type II from 3 Moroccan and 2 French families. Mean age at onset was 17 years earlier in offspring than in their parents, compatible with anticipation. There was a suggestion of imprinting, with predominantly paternal transmission of early onset and severe forms of the affection. Candidate genes were tested in the family with the largest pedigree. The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa. ADCA type II does not therefore result from an allelic mutation of the tested genes for ADCA type I or autosomal dominant retinitis pigmentosa.