Results 131 to 140 of about 341,259 (167)

Mitochondrial hydroxyapatite deposits in spinocerebellar degeneration

Annals of Neurology, 1987
AbstractWe report the presence of crystalline deposits of calcium hydroxyapatite in the mitochondria of 2 children with sporadic spinocerebellar degeneration. The deposits, identified by electron microscopy, were found in the mitochondria of neurons and smooth muscle cells in one patient and in only smooth muscle cells in the second child, but not in ...
D G, Munoz, E S, Emery, R A, Highland
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Familial spinocerebellar degeneration with corneal dystrophy

American Journal of Medical Genetics, 1985
AbstractWe report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual impairment, and slowly progressive cerebellar ...
Deeb, Mary E., Der Kaloustian, Vazken M., Jarudi, Nabil I., Khoury, Muin J., Afifi, Adel K., Bahuth, Nadia B., Shammas, John, Mikati, Mohamad A., Opitz, John M., Reynolds, James F.   +9 more
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Spinocerebellar degeneration.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1991
Forty cases with several forms of spinocerebellar degenerations were studied. The diagnosis was based on an appropriate clinical picture, radiological investigation and family history. There are multiple variants of spinocerebellar degeneration and classification of these diseases remains unsatisfactory and therefore controversial.
K, Phanthumchinda, A, Srikiatkachorn
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Spinocerebellar degeneration

Neurology, 1979
Two adult sisters had spinocerebellar degeneration. Biochemical studies revealed a very low activity of both fraction A and fraction B of the lysosomal enzyme, hexosaminidase, in serum and leukocytes. A skin biopsy showed lesions suggestive of neuronal storage disease. The disorder seems to be an adult form of GM2 gangliosidosis.
J G, Oonk, H J, van der Helm, J J, Martin   +2 more
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Ataxia - spinocerebellar degeneration

Neurologia Croatica. Supplement, 2013
Izlaganje je posvećeno klasifikaciji, kliničkoj prezentaciji i molekularnoj patogenezi najučestalijih ataksija uz uvid u terapijske pristupe.
Miletić, Vladimir, Relja, Maja
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Nystagmus-sensation Dissociation in Spinocerebellar Degeneration

Acta Oto-Laryngologica, 2003
To study nystagmus-sensation dissociation (NSD), i.e. caloric nystagmus without the sensation of vertigo, in patients with spinocerebellar degeneration (SCD).The neuro-otological and neuro-radiological records of 179 patients clinically diagnosed as having SCD (91 males, 88 females; age range 20-89 years) and 48 patients diagnosed as having peripheral ...
Yasuko, Ishibashi, Rie, Naito, Yuki, Matsui, Keiko, Sugasawa, Toshihisa, Murofushi   +4 more
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Spinocerebellar degeneration and cerebral hypomyelination in a family

American Journal of Medical Genetics, 1995
AbstractThe proband is a 24‐year‐old woman who developed symptoms of a spinocerebellar degeneration in early childhood. Neurological examination revealed normal cognitive function, optic atrophy, dysarthria, titubation, action tremors, increased deep tendon reflexes, Babinski's signs, and a spastic scissoring gait.
S, Chatkupt, L J, Wolansky, A, Jotkowitz, L Y, Shih, S D, Cook   +4 more
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A SPINOCEREBELLAR DEGENERATION WITH X-LINKED INHERITANCE

Brain, 1979
A spinocerebellar degeneration is described affecting ten members of a family over five generations with transmission by X-linked recessive inheritance. The clinical features include pes cavus, scoliosis, increased lumbar lordosis and signs of cerebellar dysfunction.
P J, Spira, J G, McLeod, W A, Evans
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Clinical and genetic aspects of spinocerebellar degeneration

Current Opinion in Neurology, 2000
After decades of confusion as a result of the marked clinical variability of spinocerebellar degeneration, molecular analyses have permitted the identification of loci and genes, which constitute the basis of a new classification. However, even greater genetic heterogeneity is suspected and several phenotypes, such as complex forms of spastic ...
A, Durr, A, Brice
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Spinocerebellar degeneration (SCD): cognitive disturbances

Acta Neurologica Scandinavica, 1991
The performance of 30 patients younger than 65 years with spinocerebellar degeneration (SCD) was compared with control subjects matched for age, sex, and education in standardized neuropsychological tests. SCD patients exhibited abnormalities in WAIS, in the recall test of anterograde verbal memory, in verbal fluency, in visuospatial function and on ...
N, Hirono, A, Yamadori, M, Kameyama, T, Mezaki, K, Abe   +4 more
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