Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.

A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy.

A family had a disorder characterized by (1) a pattern suggestive of autosomal dominant inheritance, (2) recurrent attacks of focal brain deficits starting in mid adulthood and often leading to severe motor disability with pseudobulbar palsy and dementia of the subcortical type, and (3) neuroimaging evidence of leukoencephalopathy and well-circumscribed lesions consistent with small deep infarcts. Some affected members were clinically asymptomatic but had MRI signs of leukoencephalopathy. Extensive investigations failed to uncover a previously described recognizable genetic disorder.

Botulinum antibodies in dystonic patients treated with type A botulinum toxin: frequency and significance.

We measured serum antibodies to botulinum toxin (ABT) in 96 patients with focal dystonia who had been treated with type A botulinum toxin. The frequency of detectable ABT was 3% (three patients). Patients with ABT had received more than 50 ng of botulinum toxin, and the shortest time between two injections was significantly less than in patients without ABT. The clinical evolution of the three patients was heterogeneous: one had decreased effectiveness with repeated injections, another had persistent improvement, and the third never responded to toxin injections.

Conduction of the sciatic nerve in its proximal and distal segment in patients with ALS (amyotrophic lateral sclerosis).

Conduction in the proximal segment of the sciatic nerve was assessed by recording the latencies of M and H responses from soleus muscle, in the distal segment by comparing the latencies of M waves from the abductor hallucis muscle, obtained by stimulating the tibial nerve in the popliteal fossa and at the ankle. Data from 30 patients with amyotrophic lateral sclerosis (ALS) were compared with an age-matched group of healthy subjects. We observed an increase in the difference between the latencies of M and H responses from soleus, and a lengthening of the distal latency of the M wave from abductor hallucis. The motor conduction velocity of the tibial nerve was preserved. The functional significance of the data are discussed. It is suggested that they indicate a slowing of conduction in the proximal segment of the sciatic nerve and that they can be correlated with pathological findings in proximal nerves in ALS and in the experimental anterior horn cell disorder.

Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study.

The patient we describe had cerebellar ataxia, slow eye movements, myoclonus, facial dystonia and signs of spinal cord and peripheral nerve involvement. The patient's mother, brother and sister died from the same disease. Neuropathological examination revealed lesions of olivo-ponto-cerebellar atrophy (OPCA) associated with spinal cord degenerative changes characteristic of Menzel's hereditary ataxia. Although myoclonus was similar to Hunt's dyssynergia cerebellaris myonica, pathological findings did not show significant involvement of the dentate nucleus or superior cerebellar peduncle and physiopathological hypotheses for myoclonus are discussed. Slow eye movement is emphasized in the propositus and we suggest that it could be specific of one type of OPCA. Its pathological significance is discussed, but a primitive and unique involvement of the paramedian pontine reticular formation is unlikely.

[Adrenomyeloneuropathy: clinical, genetic and morphologic features. Apropos of 5 cases]. / Adrénomyéloneuropathie: particularités cliniques, génétiques et morphologiques. A propos de cinq cas.

The authors describe five cases of adrenomyeloneuropathy, an adult form of adrenoleukodystrophy. Three of the cases were related. The clinical picture comprises progressive spasmodic paraplegia, sphincter disorders, peripheral neuropathy, sometimes hollow foot and posterior columns disorders. In one case psychic disorders were observed. Biochemical analyses confirmed or revealed adrenal insufficiency in four cases and gonadal insufficiency in three cases. A detailed genealogical study was made in two patients belonging to the same family. Histocompatibility tests revealed the presence of A2 and B15 antigens in three cases. Diagnosis was confirmed in three cases by plasma determination of long-chain fatty acids, with an increase in the level of C26 acids and the C26/C22 ratio; biopsy of the peripheral nerve in one patient revealed inclusions characteristic of Schwann's cells. Symptomatological links between ALD and familial spasmodic paraplegia, the mode of genetic transmission of the disease, the contribution of neuromuscular biopsy to the diagnosis and the therapeutic prospects of a diet low in long-chain fatty acids are discussed.

[Bilateral thalamic infarcts with abnormal movements and permanent amnesia]. / Infarctus thalamique bilatéral avec mouvements anormaux et amnésie durable.

A 45 year-old woman with mitral valve disease developed bilateral thalamic infarcts presenting as vigilance disorders, with mutism and downwards gaze paralysis during several days, followed by involuntary rhythmic movements over 13 days. These movements affected the four limbs with a rhythm variable with time as alternate or synchronized agonist-antagonist periods. Subsequent examinations demonstrated global, lasting amnesia and a subclinical disorder of vertical ocular movements. Repeat CT scan confirmed the presence of bilateral anterior thalamic infarcts affecting polar and/or paramedian territories. Emphasis is placed on the similarity of the abnormal movements in this case with L-dopa induced involuntary movements.

[Familial dementia of the Neumann type (subcortical gliosis)]. / Démence familiale de type Neumann (gliose sous corticale).

The case of a 70 year-old patient with familial dementia is reported. A cerebral biopsy and neurotransmitters dosages in CSF and brain tissue ruled out a primary dementia as Pick's or Alzheimer's disease. Our case may be related to Neumann's cases of subcortical gliosis.

[Extrapyramidal rigidity with dystonia, optic atrophy and bilateral putaminal lesions in an adolescent. Juvenile form of Leigh's disease (author's transl)]. / Rigidité extra-pyramidale avec dystonie, atrophie optique et atteinte bilatérale du putamen chez un adolescent. Forme juvénile de la maladie de Leigh.

A 19-year-old man presented with an apparently non-familial neurological disorder that had progressed from the age of 6 years. Dystonia of the trunk and limbs with extrapyramidal rigidity, dysarthria, a pyramidal syndrome with spasticity of the lower limbs, bilateral optic atrophy, and nystagmiform ocular movements were present. CT scan demonstrated symmetrical putaminal lesions. The different aetiologies of bilateral striatal lesions are considered, the final diagnosis being a juvenile form of Leigh's disease.

[Aphasia caused by left paramedian thalamic infarction. Anatomo-clinical case]. / Aphasie par infarctus thalamique paramédian gauche. Observation anatomo-clinique.

A 67 year-old right-handed man presented with an aphasia of acute onset associated to paralysis of vertical eye movements, mild cerebellar right dysmetria and right hemiparesis without hemianopia. CT scan showed two low density areas in the left thalamus and left occipital lobe. Neuropsychological examination revealed a non fluent aphasia with normal repetition, semantic paraphasias, perseverations and good comprehension of verbal and written commands. There was no alexia. Writing was impaired only by motor disturbances. Three weeks after the onset, tetraparesis and impairment of consciousness followed by a locked in syndrome supervened. Death occurred four months after onset. Neuropathological examination showed a left paramedian thalamic infarct involving the ventrolateral, dorso-medial and intralaminar nuclei, sparing the pulvinar. There was an occipital infarct sparing the calcarine scissura and multiple infarctions in the pons and the cerebellum. Broca's and Wernicke's areas were spared. We suggest that the involvement of medial nuclei could be partly responsible of language disturbances in thalamic aphasia.

[X-ray computed tomography of lumbosacral roots and primary hypertrophic neuritis (Dejerine-Sottas disease)]. / Scanner X des racines lombo-sacrées et névrite hypertrophique primitive (maladie de Dejerine-Sottas).

CT without contrast of lumbosacral nerve roots was performed in 13 patients with peroneal atrophy and 28 control subjects. Two series of 5 mm serial sections parallel to the plane of the disk were examined at the L4-L5 and L5-S1 levels, and the transverse diameter of the S1 nerve roots measured at the lower part of the lateral recess. Results showed frank bilateral, grossly symmetrical hypertrophy of lumbosacral roots in 8 of the 13 patients. This hypertrophy involved all roots examined (L4, L5, S1), except in one case where only S1 roots were involved. Hypertrophy was often more marked on the distal part of the roots and on spinal nerves, contrasting with the sometimes normal or only slightly altered appearance of the nerve roots emerging from the dural sac. In these 8 cases, the diameter of the S1 nerve roots was 8 to 18 mm, in contrast to a mean of 3.5 +/- 1 mm in the 28 controls. CT scan images were normal in the remaining 5 patients. The presence of a CT image of nerve hypertrophy was in all cases associated with a marked fall in nerve conduction rate (median nerve motor conduction rate less than 25 msec-1), and a decrease in number of myelinated fibers with numerous onion bulbs. In contrast, the absence of CT nerve hypertrophy could not predict the results of electrophysiological and histological examinations.

[Positron-emission tomographic study of the dopaminergic system in a case of secondary unilateral tremor after mesencephalic hematoma]. / Etude du système dopaminergique en tomographie par émission de positons dans un cas de tremblement unilatéral secondaire à un hématome mésencéphalique.

A 30 year-old woman developed a postural and rest tremor of the left hand following a right peduncular post-traumatic hematoma. Two years later, positron emission tomography showed a marked decrease in [18F] fluorodopa uptake contrasting with a normal [76Br] bromolisuride uptake in the right striatum. This suggests that: 1) chronic unilateral dopaminergic striatal denervation may occur without persistent D2 dopaminergic receptor upregulation in humans; and 2) symptomatic mesencephalic tremor may be, at least in part, related to dopaminergic striatal denervation.

[Late postpartum eclampsia, myth or reality?]. / Eclampsie tardive du post-partum, mythe ou réalité?

It has never been formally established whether eclampsia can come on more than 48 hours after delivery. We report a case of a patient who had convulsions together with transitory raised blood pressure coming on 14 days after her delivery. MRI was carried out 24 hours after the attack and showed pathological sub-cortical images and there was a hyper signal at T2. This is now a well known feature and has been described in the course of typical eclampsia fits. On the other hand MRI is able to eliminate a certain number of differential diagnoses such as cerebral thrombophlebitis, cerebral vascular accidents and tumours. A cerebral blood flow study and a trans-cranial Doppler flow study showed (as far as we know for the first time) a lessening in perfusion and in speed of flow giving rise to lowered blood circulation in that part of the brain and suggestive of vascular spasm. This observation makes it very likely that eclamptic crises can occur two weeks after delivery and favours a vascular spasm being the origin of these crises.

[Meningoradiculitis after injection of an antirabies vaccine. A vaccine from human diploid cell culture]. / Méningo-radiculite secondaire à une vaccination antirabique. A partir d'un vaccin préparé sur culture de cellules diploïdes humaines.

We report the case of a 45-year old farmer who developed meningoradiculitis after preventive anti-rabies vaccination with a vaccine obtained from human diploid cell culture. Two weeks after the second injection of vaccine, the patient complained of sensory symptoms in the right half of his body. These symptoms spontaneously regressed. The literature is reviewed and the physiopathological hypotheses are discussed.

[Agenesis of the corpus callosum in a man with complete mosaic trisomy 8]. / Agénésie du corps calleux chez un homme ayant une trisomie 8 complète en mosaïque.

The coexistence in an epileptic patient of a radiologically confirmed agenesis of the corpus callosum and other somatic abnormalities, notably skeletal, prompted us to perform a karyotype which showed an extra chromosome 8. The trisomy 8-callosal agenesis association is not exceptional, but it may easily be missed owing to the absence or scarcity of clinical signs of the cerebral malformation. We would suggest that patients with confirmed agenesis of the corpus callosum should be investigated for trisomy 8 and conversely, that patients with trisomy 8 detected during examination for a characteristic malformative syndrome should be systematically investigated for abnormality of the neocortical commissure.

[Cerebellar atrophies]. / Les atrophies cérébelleuses.

Cerebellar atrophy is often discovered at computerized tomography or MRI of the brain, but its exact cause is frequently difficult to determine. Alcoholism is the predominant factor, but numerous other diseases may also be considered. The diseases fall into two main categories: primary cerebellar degeneration with, in particular, olivo-ponto-cerebellar atrophy, and acquired atrophy which may be of paraneoplastic or endocrine origin or caused by toxic agents other than alcohol. In this review paper the stress is placed on the clinical, paraclinical and histological distinctive features of the different types of cerebellar atrophy. The modalities of onset and the course of these lesions are of particular importance. The authors propose a practical aid to the diagnosis in the form of a deliberately simplified diagram.