Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

2000 ◽  
Vol 43 (2) ◽  
pp. 82-87 ◽  
Author(s):  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
Kazuhiro Ohya ◽  
Shunzo Chiba ◽  
Kimio Sasaki
Keyword(s):  
Mental Retardation ◽  
Peripheral Neuropathy ◽  
Cerebellar Ataxia ◽  
Hereditary Cerebellar Ataxia

Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

Genomics ◽  
1994 ◽  
Vol 19 (1) ◽  
pp. 145-148 ◽  
Author(s):  
Tom Glaser ◽  
Carl C.T. Ton ◽  
Robert Mueller ◽  
Maria Luiza Petzl-Erler ◽  
Christina Oliver ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Gene Mutations ◽  
Pax6 Gene

scholarly journals A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

2020 ◽  
Vol 34 (11) ◽  
Author(s):  
Malihe Mohamadian ◽  
Pegah Ghandil ◽  
Mohsen Naseri ◽  
Afsane Bahrami ◽  
Ali Akbar Momen
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Syndrome Type ◽  
Homozygous Variant

Disulfiram neuro-toxicity: a review and report of a case of fluctuating neuro-encephalopathy

1991 ◽  
Vol 8 (1) ◽  
pp. 51-54 ◽  
Author(s):  
Marcus Webb
Keyword(s):  
Peripheral Neuropathy ◽  
Literature Review ◽  
Cerebellar Ataxia ◽  
Clinical Course ◽  
Chronic Alcoholism ◽  
Toxic Effects ◽  
Anxiety And Depression ◽  
Rare Combination ◽  
Grand Mal

AbstractA case of chronic disulfiram (Antabuse) toxicity is described, in the context of a literature review, apparently the first such description from Ireland. The rare combination of encephalopathy with peripheral neuropathy occurred in this case, along with other probably related features. These included a fluctuating clinical course, cerebellar ataxia, grand mal seizures, impotence and a delay in improvement on discontinuing disulfiram. It is likely that symptoms of anxiety and depression in this man were also in part induced by disulfiram toxicity, but interpretation of events is complicated by developing arteriosclerosis. The difficulties in distinguishing toxic effects of disulfiram from complications of chronic alcoholism are emphasized, with resulting delay in recognizing disulfiram toxicity.

Hereditary cerebellar ataxia and genetic linkage with HLA

1986 ◽  
Vol 72 (4) ◽  
pp. 327-332 ◽  
Author(s):  
D. Kumar ◽  
C. E. Blank ◽  
K. Gelsthorpe
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Linkage ◽  
Hereditary Cerebellar Ataxia

scholarly journals Opsoclonus showing only during eye closure in hereditary cerebellar ataxia.

1993 ◽  
Vol 56 (9) ◽  
pp. 1037-1038
Author(s):  
T Hattori ◽  
Y Takaya ◽  
Y Tsuboi ◽  
K Hirayama
Keyword(s):  
Cerebellar Ataxia ◽  
Hereditary Cerebellar Ataxia ◽  
Eye Closure

Non-progressive mental retardation and peripheral neuropathy in a mother and her son

2001 ◽  
Vol 10 (4) ◽  
pp. 273-276
Author(s):  
Cheryl Longman ◽  
John Tolmie ◽  
Robert McWilliam
Keyword(s):  
Mental Retardation ◽  
Peripheral Neuropathy
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