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Cerebellar ataxia - hypogonadism

Orpha number ORPHA1173
Synonym(s) Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD-10
  • G11.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by the association of cerebellar ataxia and hypogonadism. Prevalence is unknown. It is a rare syndrome that was first reported in 1907 by Gordon Holmes following the post-mortem examination of an individual with atrophy of the cerebellum and inferior olives. Since then, the label of 'Holmes type' of cerebello-olivary degeneration has been erroneously applied to patients without genital abnormalities and to those with dominant ataxias, only on the basis of similar pathological findings. Onset age, neurological picture and endocrine findings are extremely variable, suggesting that cerebellar ataxia with hypogonadism is a heterogeneous syndrome. Onset of ataxia may occur from early childhood to the fourth decade. Features associated with cerebellar symptoms include corticospinal signs, dementia, peripheral axonal neuropathy, and deafness. Hypogonadism is usually hypogonadotrophic in origin, but hypergonadotrophic hypogonadism has also been reported. The syndrome is transmitted as an autosomal recessive trait. Brain imaging reveals cerebellar atrophy and, in some instances, cerebral white matter abnormalities. Complex III or IV mitochondrial respiratory chain deficiency or muscle coenzyme Q10 deficiency have been shown in few cases. Hypogonadotrophic hypogonadism may arise from either hypothalamic or pituitary dysfunction. Repeated stimulation with luteinizing hormone-releasing hormone (LHRH) may be useful to distinguish between a hypothalamic or pituitary origin of the hypogonadism. Treatment using exogenous gonadotropin-induced testicular enlargement and spermatogenesis was reported in one case.

Expert reviewer(s)

  • Pr Giuseppe DE MICHELE

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