Familial juvenile neuronal storage disease. New disease or variant of juvenile lipidosis?

Two patients had an illness characterized by a positive family history, juvenile onset, macular cherry-red spots, myoclonus, generalized convulsions, and cerebellar ataxia. Neither had dementia, gargoyle facies, bone or joint deformities, or visceromegaly. Vacuolated lymphocytes were not seen in the peripheral blood or bone marrow.

Clinical studies of the movement-related cortical potential (MP) and the relationship between the dentatorubrothalamic pathway and readiness potential (RP).

In order to investigate the influence of basal ganglia and cerebellar involvement on the preparatory state of the cerebral cortex for voluntary movement, the cortical potential preceding finger movement was studied in 20 patients with Parkinson's disease and 20 patients with cerebellar ataxia. Readiness potential (RP) was abnormal in 90% of the Parkinson group and in 55% of the cerebellar ataxia group. The most frequent abnormality was a depressed amplitude and earlier onset of RP in both groups.

Electroencephalographic studies myoclonus.

Electroencephalographic studies were carried out in 30 patients with various kinds of myoclonus. It was confirmed that the technique of jerk-locked averaging with a backward averaging program was useful for detecting cortical spikes in association with the spontaneously occurring myoclonus, which are not recognized on the convential polygraph, and for evaluating the temporal and topographical relationship between the spike and the myoclonus. By this technique, cortical spikes were shown to precede the myoclonus of a contralateral upper extremity muscle by 7 to 15 ms ith progressive myoclonic epilepsy showed a high amplitude somatosensory evoked potential (SEP) in response to electrical stimulation of the median nerve.

HLA and Japanese MS.

Determination of HLA-A, -B and -C types in 43 Japanese patients with multiple sclerosis (MS) and of DR type in 25 MS patients was carried out using antisera from the 7th International Histocompatibility Workshop. The results were compared with 46 controls typed simultaneously. Twenty-three patients were also tested for HLA-Dw2.

Lipids and proteins of erythrocyte membrane in Duchenne muscular dystrophy.

The lipid and protein composition of erythrocyte membranes from patients with Duchenne muscular dystrophy was studied. When compared with age and sex-matched controls, no significant change was observed in the content of cholesterol and phospholipid, phospholipid components and their fatty acid composition, though the lipid content and fatty acid distributions were different between adult and child controls. The protein distribution on SDS-acrylamide gel electrophoresis was identical for Duchenne patients and controls.

Multiple sclerosis among Orientals and Caucasians in Hawaii: a reappraisal.

A comparative retrospective study of Oriental and Caucasian patients with multiple sclerosis (MS) failed to reveal significant differences between the two groups regarding historical data, such as sex ratio, mode of onset, age at onset, duration of illness, and clinical course, suggesting that MS is essentially the same disease in both groups. However, certain clinical features were more frequent in Orientals: Severe bilateral optic nerve involvement; acute transverse myelopathy, especially of a recurrent nature; clear-cut sensory levels; and optic-spinal-brainstem and optic-spinal involvement. Environmental factors may also be responsible.

Deep tendon reflex in Eaton-Lambert syndrome.

The mechanism of absent or decreased deep tendon reflex in Eaton-Lambert syndrome was studied. There was no evidence suggestive of the presence of a neuropathy. On the other hand, a brief (about 10 seconds) maximal voluntary contraction made the absent deep tendon reflexes elicitable, which suggests that the block of neuromuscular transmission in Eaton-Lambert syndrome is responsible for the absent or decreased deep tendon reflex.

Spastic paraplegia with neurogenic amyotrophy manifesting ballooned axons in sural nerve.

A 21-year-old man had progressive symmetric, distal muscle atrophy and weakness, as well as spasticity of the limbs. Histologic examination of the sural nerve disclosed swollen axons containing membranous tubular profiles, ring tubules, large mitochondria with abnormal cristae, and glycogen like granules. Peripheral sensory nerve fibers also were affected.