PMID: 8453811Mar 1, 1993Paper

Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia)

Clinical Neurology and Neurosurgery
G De MicheleG Campanella

Abstract

We report four sporadic cases of cerebellar ataxia associated with hypogonadism. All patients were female. The neurological symptoms appeared in the first three decades. Apart from ataxia, the most frequent features were nystagmus, dysarthria, mental impairment, brisk tendon reflexes, skeletal deformities, peripheral neuropathy, and tremor. Neuroimaging studies showed constant cerebellar atrophy, in some instances associated with involvement of either grey or white cerebral matter. Neurophysiological studies demonstrated an axonal neuropathy. Endocrine evaluation showed heterogeneity of the hypogonadism, which was hypogonadotrophic in one patient and hypergonadotrophic in the other three. One patient had partial deficiency of muscle cytochrome c oxidase. The syndrome appears to be a heterogeneous multisystem disorder and in some cases a mitochondrial metabolism deficiency could be suspected.

References

Jan 1, 1990·Clinical Neurology and Neurosurgery·G De MicheleD Mansi
Aug 1, 1990·Journal of Neurology, Neurosurgery, and Psychiatry·A FillaG Campanella
Feb 1, 1989·Journal of Neurology, Neurosurgery, and Psychiatry·C A TassinariJ Roger
Aug 1, 1982·Journal of Neurology, Neurosurgery, and Psychiatry·J BercianoA Vaquero
Sep 1, 1964·Brain : a Journal of Neurology·W B MATTHEWS, A T RUNDLE

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Citations

May 19, 2000·Clinical Neurology and Neurosurgery·S VielhaberM Herrmann
Sep 21, 2000·Clinical Neurology and Neurosurgery·A K ErdemoğluD Selçuki
May 10, 2013·The New England Journal of Medicine·David H MargolinStephanie B Seminara
Dec 17, 2005·Annales d'endocrinologie·R DesailloudB Simovic-Corroyer
Sep 1, 1995·Journal of Child Neurology·S H Subramony
May 28, 2005·Human Reproduction Update·Deepti Goswami, Gerard S Conway
Nov 25, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·G DeuschlM Brin
Dec 31, 2004·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·N A GeorgopoulosV A Tzingounist

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