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Two familial cases of a myopathy remarkable by the presence of a granulo-filamentar, electron dense material were reported in 1978. In a second step, in 1988, it was demonstrated that this material contained an abnormally-phosphorylated desmin. During the last twenty years, the occurrence of new cases in this family confirmed the autosomal dominant inheritance of the disease, and made it potentially informative for molecular genetics studies. This allowed first to map the disease on chromosome11q21-23, and afterwards to identify a mutation within a gene coding for a chaperone protein, alphaBcrystallin. An extensive clinical, pathological and genetic study of this princeps family is herein reported in detail. First, it showed the possible detection of histopathological changes in presymptomatic patients. Second, it allowed to demonstrate the simultaneous occurrence of both alphaBcrystallin and desmin in the granulo-filamentar aggregates. Third, this study provided a precise knowledge of the evolution rate of the disease. The analysis of similar observations reported in the literature clearly shows the clinical, pathological and genetic heterogeneity of this new neuro-muscular disorder.

A 65 years old woman with chronic high blood pressure and diabetes mellitus presented with a mutism akinetic of sudden onset and a right total hemiplegia with a Babinski sign secondary to a left anterior cerebral artery infarction. She had had six months earlier a transient gait disturbance. At that time, the CT scan showed lacunar infarcts of the head of both caudate nuclei. Neuropathological examination revealed that the left infarction of the anterior cerebral artery involved the superior frontal gyrus, the supplementary motor area, the cingulate gyrus and the corpus callosum. There were also multiple lacunes of the head of both caudate nuclei, anterior limb of the internal capsules, white matter, basal ganglia and thalami. The mutism akinetic was thought to be the result of a bilateral disruption of a functional loop including on each side, the supplementary motor area, the cingulate gyrus, the subcallosal tract and the head of the caudate nucleus. On the right side, the lesion of the caudate nucleus could have interrupted this loop normally involved in the induction of voluntary movements and in the communication with the external surroundings.

A 52-year old man had a generalized seizure followed by progressive memory disturbances, affective changes, right hemiplegia and aphasia. He died 4 years later after a period of coma. Neuropathological findings included slight cortical atrophy, pallor of the centrum ovale, and infiltration of the cortex and subcortical white matter by neoplastic glial cells, with neither major neuronal loss nor spongiosis. Microglial rod cells were observed. The gliomatosis extended within the thalamus and subthalamic area on both sides, whereas the brain stem was much less involved. The spinal cord and peripheral nerves were not examined. Abnormal glial cells were stained by the glial fibrillary acid protein, which confirms the astrocytic differentiation of the tumoral cells.

A 53 year-old veterinary surgeon accidentally ingested 0.8 g of podophyllin. Twelve hours later, he was deeply comatose, with clinical and EMG signs of extensive axonal sensorimotor and autonomic peripheral neuropathy. In addition, transient bone marrow and hepatic toxicity occurred. The coma lasted 2 weeks. Systemic and neurological disturbances started to improve at 3 months post-onset, but the patient died four months later from gastro-intestinal bleeding. Sural nerve biopsy showed loss of myelinated fibers and signs of axonal degeneration with type E teased fibers. The cytoplasm of Schwann and endothelial cells was vacuolated and swelled. Diffuse interstitial aedema was noted. Podophyllin acts as a spindle poison, binds microtubular proteins and inhibits axoplasmic flow.

A 66 year-old woman presented with severe memory disorders followed several months later with tremor of Parkinsonian type of the right upper limb totally relieved by treatment with levodopa-benserazide. Four years later she was admitted with memory disturbances, temporospatial disorientation, constructional and ideatory apraxia, dressing apraxia and language difficulties. Eight years later she had become bed-ridden, with deviation of head and eyes towards the left, hypertonus tremor and stereotyped movements. Neuropathologic examination showed neuronal loss in substantia nigra and left locus ceruleus, dorsal nucleus of the pneumogastric nerve and Meynert's basal nuclei on both sides. Neurofibrillary tangles affected the peri-aqueductal grey matter and Lewy's bodies were observed in the substantia nigra. Neurofibrillary tangles and granulovacuolar degeneration together with senile plaques were numerous in the hippocampus, but senile plaques and neurofibrillary tangles were rare in the remainder of the cortex. Combined Alzheimer's disease and Parkinson's disease could be due to simple coincidence, one of the diseases possibly predisposing to the appearance of the other.

In 5 cases of sporadic spinal muscular atrophy in young adults the muscular atrophy was localized in the hands and forearms. Age at onset ranged from 7 to 20 years. The duration of the disease was less than 5 years in 3 patients and more than 15 years in 2. Electromyography showed neurogenic anomalies in all wasted muscles, denervation potentials being also present in the proximal muscles of the upper limbs and distal muscles of the lower limbs in 2 patients. Motor nerve conduction velocity and sensory nerve action potentials were normal. Advantages of a topographic classification of the distal form of chronic spinal muscular atrophy are discussed. Spinal cord MRI was performed in 4 patients with a 0.5 Tesla superconducting magnet using surface coils, using a T1-weighted spin-echo technique (ET 26 ms; RT 500 ms) and a T2-weighted spin-echo technique (ET 90, 180 ms; 2,000 ms). With the T1 technique, axial MRI sections 7 to 9 mm thick of spinal cord showed a normal image between C1 and C4, and a flattened image between C5 and T1. This was considered as a possible spinal cord segmental atrophy.

A case of pathological crying elicited only by non-verbal auditory stimulations in a woman with probable dementia of the Alzheimer type is reported. As neuropsychological data available in this case have suggested a greater involvement of left than right temporal cortex, the authors propose that the crying phenomenon could have been explained by a similar inter-hemispheric asymmetry in pathological involvement of the limbic structures.

Symptoms and signs in four patients with thalidomide-induced neuropathy developing during treatment of discoid lupus were limited for long period to distal paresthesiae with altered sensory conduction velocities. Semi-thin biopsy specimens of the distal sural nerve showed depopulation of myelinized fibers, mainly affecting those of large caliber, and signs of axonal degeneration. Study of dissociated fibers showed a high proportion of E fibers. Morphometry confirmed the axonal lesion. Ultrastructural examination demonstrated anomalies of axons of amyelinic fibers (vacuoles, lamellar figures) and of Schwann cells (stacked cytoplasmic prolongations), together with numerous collagen pockets, all non-specific lesions. The disease course was slow, with disappearance of sensory symptoms in a few weeks in 3 of the 4 cases and normal clinical findings in one of the four patients one year after cessation of treatment. Definite correlations between the dose administered and the severity of the neuropathy could not be established. The still poorly understood mechanism of action is discussed.

Twelve cases of Lyme's disease with neurological complications are reported. Seven patients had meningoradiculitis of the Garin-Bujadoux-Bannwarth type, with facial palsy in 2 cases. In 1 case the radiculitis involved only the cauda equina. Two more patients had meningomyelitis. Of the remaining 3, 1 had subacute inflammatory polyneuritis with albumino-cytologic dissociation, 1 had probable dorsal epiduritis, and the last one developed parkinsonism and communicating hydrocephalus after an otherwise classical meningoradiculitis. Three patients recalled a tick bite but only one a cutaneous eruption. No arthritis or cardiac involvement were observed. In 2 cases the CSF contained pseudo-neoplastic cells. Severe pain was a prominent feature in most cases. Pain consistently and rapidly improved on high-dose intravenous penicillin, while other signs or symptoms (e.g. paresthesias or fatigue) often lasted several months. Parkinsonism and hydrocephalus were not influenced by penicillin, and both required specific therapy. Isolated neurological (both central and peripheral) involvement is not unusual in Lyme's disease and may give rise to a wide range of signs and symptoms. This diagnosis is to be considered even when other features of Borrelia burgdorferi infection are lacking.

Three patients, 72, 45 and 18 years old belonging to 3 successive generations presented with respiratory insufficiency. The clinical onset was at about 40 years of age in the two older patients and at 18 years in the youngest one. Serum enzymes of muscle origin were within normal range as well as leucocyte maltase activity. The muscle biopsy in all three patients showed numerous cytoplasmic (spheroid) bodies within type I muscle fibers. Familial cytoplasmic body myopathy with familial incidence has rarely been reported and still more rarely has been revealed by respiratory insufficiency in adult life.