New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

American Journal of Medical Genetics

Volumn 99, Issue 1, 2001, Pages 29-33

  Amor, David J ^a,c   Delatycki, Martin B ^a   Gardner, R J McKinlay ^b   Storey, Elsdon ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Cerebellar ataxia; Deafness; Holmes ataxia; Hypergonadotropic hypogonadism; Perrault syndrome

Indexed keywords

ADULT; AMENORRHEA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FAMILIAL DISEASE; FEMALE; HEARING IMPAIRMENT; HOLMES ATAXIA; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM; FAMILY HEALTH; FEMALE; GONADOTROPINS; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOGONADISM; MALE; MIDDLE AGED;

ATAXIA;

EID: 0035866017     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010215)99:1<29::AID-AJMG1119>3.0.CO;2-Q     Document Type: Article

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2. Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia)
3. Two adult females with a distinct familial mental retardation syndrome: Nonprogressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy
4. Neurologic anomalies of Perrault syndrome
5. Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familial cerebellar ataxia
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16. Familial hypogonadotrophic eunuchoidism with cerebellar ataxia