Wernicke encephalopathy and Creutzfeldt-Jakob disease.

We assessed the prevalence of Wernicke encephalopathy (WE) in all 657 cases suspected of Creutzfeldt-Jakob (CJD) referred from 2001 to 2006 to the French Neuropathology Network of CJD. Clinical, biological and imaging data were reviewed when the diagnosis of WE was made at autopsy. No CJD was found in five cases suspected of sporadic CJD. In these five cases, myoclonus had been observed in four, CSF 14-3-3 protein in two. In 14 other cases, WE was combined with CJD, 13 of which were sporadic. These belonged mainly to the molecular variants of sporadic CJD associated with a long duration of disease. This stresses the necessity of remaining alert to the diagnosis of WE when CJD is suspected.

[Usefulness of molecular genetic analysis of the PRNP gene in patients with cerebellar ataxia: a new case of fatal familial insomnia]. / Intérêt de l'étude génétique du gène PRNP devant un syndrome cérébelleux: à propos d'un nouveau cas d'insomnie fatale familiale.

We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon 178 of prion protein gene and by heterozygoty (Met/Val) at codon 129. The clinical picture included cerebellar ataxia, dysautonomia and frontal lobe syndrome. Prion protein gene analysis was performed in order to support a diagnosis of Creutzfeldt-Jakob disease and assert the diagnosis of fatal familial insomnia. Neuropathologic analysis showed unusual changes including severe neuronal loss in the inferior olive and the dentate nucleus, and absence of obvious lesions in the thalamus. Moreover, spongiform changes were moderate in the superior temporal cortex and the occipital cortex. There was no spongiform change in frontal cortex. Abnormal prion protein (PrP(res)) was mainly evidenced in the parietal cortex. Molecular genetic study of the PRNP gene should be performed in patients who present with a cerebellar ataxia of equivocal origin.

[Vasculitis confined to the peripheral nervous system: atypical clinical presentation]. / Vascularite restreinte au système nerveux périphérique: présentation clinique atypique.

INTRODUCTION: Peripheral neuropathy is a common feature of many vasculitic syndromes. In some patients, the neuropathy may be the sole manifestation of vasculitis. EXEGESIS: A 74-year-old lady complained of pain and weakness of the lower limbs. In her history, we noted right optic neuritis, monoclonal gammopathy and dyslipidemia treated by fenofibrate. Clinical examination showed proximal muscle strength deficit of lower limbs, with quadriceps femoral muscles atrophy. Muscle stretch reflexes were absent. There was no deficit in light touch and pain sensation, but proprioception was impaired. There was electromyographic evidence of myopathic impairment with abnormal spontaneous activity. Amplitude of the sensory action potentials was mildly reduced. Laboratory tests were normal. Fenofibrate was stopped, but the clinical symptoms increased. Four months later, another electrophysiological study showed a very reduced amplitude of sensory action potentials. Myopathic impairment was less severe. Nerve biopsy showed inflammation and necrosis of nerve arteries, which lead to the diagnosis of necrotizing vasculitis. A corticosteroid treatment was done. Six months later, clinical and electrophysiological improvement clearly appeared. CONCLUSION: Histological lesions of vasculitis confined to the peripheral nervous system are those of classic polyarteritis nodosas. There is no systemic involvement nor biological abnormalities, which strengthens the role of nerve and muscle biopsy. The prognosis is good after corticosteroid treatment, which is not the case with systemic vasculitis.

[Refsum's disease: evolution 35 years after diagnosis]. / Maladie de Refsum avec 35 ans de recul.

Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease caused by a defective alpha oxidation of a C20 fatty acid: the phytanic acid. Deficiency of a peroxysomal enzyme called "Phytanoyl-Co-A alpha hydroxylase" leads to an accumulation of phytanic acid. The clinical picture include retinitis pigmentosa, peripheral neuropathy, ataxia and elevated cerebrospinal fluid protein concentration. Firstly described in 1946 by Sigvald Refsum, dietary treatment leads to an improvement of neurological symptoms but does not affect retinal changes. To our knowledge, there is no data in the literature on long term follow-up. A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis. The phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy. This observation is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairment, with no loss of muscle strength or sensory deficit.

Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia. Results of a double-blind drug-placebo cooperative study.

OBJECTIVE: To study the effect of the levorotatory form of 5-hydroxytryptophan on the cerebellar symptoms of Friedreich's ataxia. DESIGN: Cooperative double-blind study of the levorotatory form of 5-hydroxytryptophan vs placebo. SETTING: Twelve centers in research hospitals. PATIENTS: Twenty-six patients were included; 19 completed the study (mean +/- SD age of patients, 25.9 +/- 8.1 years). Of these 19 patients, eight were treated with placebo and 11 were treated with the drug. MAIN OUTCOME MEASURES: A semiquantitative scale for kinetic and static ("postural") cerebellar functions and quantitative measurements of time in standard tests that evaluated stance, speech, writing, and drawing. RESULTS: In the active treatment group, a significant decrease of the kinetic score was observed (P = .03), indicating an improvement in coordination. CONCLUSIONS: These results demonstrated that the levorotatory form of 5-hydroxytryptophan is able to modify significantly the cerebellar symptoms in patients with Friedreich's ataxia. However, the effect is only partial and not clinically major.

[Transient global amnesia]. / L'ictus amnésique.

Transient global amnesia is a momentary neurological accident frequently encountered in subjects over 50 years of age. Its diagnosis is purely clinical and rests on the sudden occurrence of retention amnesia associated with retrograde amnesia without disturbances in speech or other neurological deficits. The amnesia totally regresses within less than 24 hours. Paraclinical examinations add nothing to the diagnosis. The cause of transient global amnesia is unknown, and the various hypotheses that have been put forward (e.g. epilepsy, transient ischaemia or migraine) have not been confirmed by clinical and epidemiological studies. Despite a low, but real risk of recurrence, the prognosis is perfectly benign, and there is no need for curative or preventive treatment.

[Neurologic complications of cocaine abuse]. / Accidents neurologiques liés à l'usage de la cocaïne.

Cocaine is increasingly used by drug addicts. It is considered harmless, but numerous, varied and often serious complications due to its abuse have been published. Among these, neurological complications are in the forefront. They include generalized or partial epileptic seizures, ischaemic or haemorrhagic cerebral vascular accidents, visual loss caused by optic neuropathy or by retinal artery occlusion, headaches and exacerbation of tics. Infections of the central nervous system are possible via endocarditis or septicaemia of venous or nasal origin. Neurological disorders may also occur as a consequence of a major cardiovascular complication induced by cocaine (myocardial infarction and/or dysrhythmia, aortic dissection). These neurological complications are unpredictable, and they weigh heavily on the functional and sometimes vital prognosis in habitual or occasional cocaine abusers.

[Lesions of the brain stem and cerebellum of alcoholic and nutritional deficiency origin]. / Atteintes du tronc cérébral et du cervelet d'origine alcoolique et carentielle.

Lesions of the brain stem and cerebellum due to toxic substances or nutritional deficiencies are mostly seen in chronic alcohol abuse and, more rarely, in severe malnutrition. Four clinical entities are described: Wernicke's encephalopathy is the most frequent of these, with progressive development of disorders of consciousness, oculomotor palsies and ataxia. The condition regresses under massive vitamin BA therapy, but it often leaves neuropsychological sequelae (e. g. Korsakoff's syndrome). The best treatment is prevention by giving thiamine to alcoholics and to malnourished subjects who receive glucose infusions. Cerebellar atrophy of alcoholic origin is responsible for subacute ataxia which, as a rule, is definitive. Central pontine myelinolysis is rare and presents as sudden quadriplegia with pseudobulbar palsy and sometimes "locked-in" syndrome. Beside alcohol, a frequent cause is major ionic disorders, such as hyponatraemia or its excessively rapid correction. Pellagra is a classical disease rarely seen in this country. It is due to nicotinamide (vitamin PP) deficiency.

[A case of diffuse pulmonary amyloidosis associated with peripheral neurologic signs]. / A propos d'une observation d'amylose pulmonaire diffuse associée à des signes neurologiques périphériques.

The authors report a case of well-tolerated and prolonged diffuse parenchymal amyloidosis of the lungs associated with signs of peripheral neuropathy. The latest classifications of amyloidosis generally and of bronchopulmonary amyloidosis specifically are reviewed. The problems raised by this particular case, and notably its relation with the neurological signs observed, are discussed.

[Benign forms of multiple sclerosis : a revaluation (author's transl)]. / Les formes bénignes de la sclérose en plaques. Réévaluation.

The authors studied 38 cases of benign forms of MS, defined as those allowing a normal or nearly normal social, occupational, and family life over a "long" period of tens of years, for at least 15 years (mean : 28 years, range : 15 to 68 years).--Forms with rare relapses with long intervals between them (18 cases), and a mean period of 14 years (5 to 30) between the first and second episode.--Recurrent forms (17 cases) with frequent attacks (one or two a year), including 8 cases with no further relapses after an average period of 10 years, and 9 cases with continuation at the same rhythm for 15 to 23 years.--Secondarily progressive forms belonging to both types--8 in the first and 3 in the second--characterized by the late onset (mean : 25 years, range : 15 to 47 years) of a progressive paraplegia.--Slow forms (3 cases) with an early but only slowly evolving progressive phase, which fall into a border line category of benign forms. Independently of the mean age of onset (26 years); the predominence of females (2.2); and the symptomatology of the first attack (40 p. 100 involve the cranial nerves, and 40 p. 100 have pyramidal signs), the two essential characteristics of benign forms are the remarkable regression of relapses (rare of frequent) and the absence of a progressive phase. Once the 10-year point has been passed without permanent disability the prognosis is good, but with the reserve that the disease can become worse at a later stage.