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Author Topic:   Seeking cases: ataxia with hypogonadism
David H. Margolin
posted 04-11-2000 08:38 PM     Click Here to See the Profile for David H. Margolin   Click Here to Email David H. Margolin     Edit/Delete Message Reply w/Quote
The following brief case description is for circulation to the
neurology, neurogenetics and endocrine communities worldwide, seeking
additional kindreds possibly carrying the same mutation.

Clinical description:
We report a Palestinian family with a young-adult-onset
neurodegenerative disorder characterized by progressive ataxia and
dementia, and hypogonadotrophic hypogonadism. Transmission appears to
be autosomal recessive (AR). The degree of hypogonadism is variable,
with a spectrum of manifestations ranging from delayed or incomplete
puberty to adult infertility. Other endocrine functions appear normal.
The endocrine manifestations may precede neurologic symptoms by several
years. Eye movements may be normal. There are no seizures.

Differential diagnosis:
--The syndrome differs from Kallman syndrome in its AR transmission and
normal sense of smell.
--The syndrome differs from Boucher-Neuhauser syndrome because of normal
chorio-retinal appearance and visual function.
--The syndrome differs from Friedreich ataxia because of the absence of
peripheral nerve dysfunction.

Genetic characterization:
Genetic testing in our index case has ruled out known mutations causing
familial ataxia. An effort to map the faulty gene would be aided by the
identification of other families with the same mutation.

Contact information:
If you have seen cases that appear similar, please contact:
David H. Margolin, MD, PhD
Department of Neurology / ACC-835
Massachusetts General Hospital
Boston, Massachusetts, USA 02114

Email David.Margolin@post.harvard.edu

[This message has been edited by David H. Margolin (edited 04-09-2010).]


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