scholarly journals Ataxias and Cerebellar or Spinocerebellar Degeneration

2019 ◽  
Author(s):  
Keyword(s):  
Spinocerebellar Degeneration

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

Neurology ◽  
1996 ◽  
Vol 46 (1) ◽  
pp. 219-222 ◽  
Author(s):  
N. Howell ◽  
I. Kubacka ◽  
R. Smith ◽  
F. Frerman ◽  
J. K. Parks ◽  
...  
Keyword(s):  
Spinocerebellar Degeneration ◽  
Leigh Disease

An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration

1980 ◽  
Vol 48 (1) ◽  
pp. 123-132 ◽  
Author(s):  
Ian R. Livingstone ◽  
Frank L. Mastaglia ◽  
Ronald J.T. Pennington
Keyword(s):  
Spinocerebellar Degeneration ◽  
Pyruvate Metabolism

scholarly journals Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia

Blood ◽  
1990 ◽  
Vol 75 (1) ◽  
pp. 271-273 ◽  
Author(s):  
E Beutler ◽  
R Moroose ◽  
L Kramer ◽  
T Gelbart ◽  
L Forman
Keyword(s):  
Glutamic Acid ◽  
Hemolytic Anemia ◽  
Heat Stability ◽  
The Other ◽  
Spinocerebellar Degeneration ◽  
Clinical Expression ◽  
Synthetase Deficiency ◽  
Neurologic Symptoms ◽  
Glutamylcysteine Synthetase ◽  
Major Abnormality

Abstract gamma-Glutamylcysteine synthetase is one of the enzymes of glutathione (GSH) synthesis. A deficiency of this enzyme has been found only once previously in humans: it was associated with spinocerebellar degeneration and hemolytic anemia. We report the case of a woman, daughter of fifth cousins, who was gamma-glutamylcysteine-synthetase- deficient. Modest decreases in the amount of GSH in cultured lymphoblasts and fibroblasts could be documented. The amount of residual enzyme was insufficient to permit detailed studies of the characteristics of the mutant enzymes, but no major abnormality in its Km for cysteine and glutamic acid or in its heat stability were found. In contrast to the earlier report, the only manifestation of the enzyme deficiency was hemolytic anemia. This leads us to conclude that either the occurrence of neurologic symptoms in the other reported family was a chance association or that the clinical expression of this rare defect is pleomorphic.

The educational programs for extrapyramidal disease and spinocerebellar degeneration patients and their families

2019 ◽  
Vol 7 (2) ◽  
pp. 61-64
Author(s):  
Takeshi Oki ◽  
Naohiko Sugawara ◽  
Hiroyuki Haruta ◽  
Jyunichi Takanashi
Keyword(s):  
Educational Programs ◽  
Spinocerebellar Degeneration ◽  
Extrapyramidal Disease
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