New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
| Autor: | David J. Amor, Elsdon Storey, Martin B. Delatycki, R. J. M. Gardner |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Pediatrics
medicine.medical_specialty Cerebellum Ataxia Cerebellar ataxia business.industry Neurological disorder medicine.disease Central nervous system disease Hypergonadotropic hypogonadism Endocrinology medicine.anatomical_structure Internal medicine medicine Amenorrhea Age of onset medicine.symptom business Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 99:29-33 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | Cerebellar ataxia and hypergonadotropic hypogonadism comprise a rare and presumably heterogeneous association. Inheritance in most cases appears to be autosomal recessive, and associated features include deafness, intellectual impairment, and neuropathy. Typically, onset of ataxia is in the first decade and hypogonadism results in primary amenorrhoea in females. We describe two sisters with a previously undescribed pattern of adult onset progressive cerebellar ataxia and secondary amenorrhoea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present, and intellect was normal. Onset of neurological symptoms was in the third decade, with secondary amenorrhoea occurring at the ages of 16 and 32 years, respectively. The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of Perrault syndrome, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism. |
| Databáze: | OpenAIRE |
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