Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy

American Journal of Ophthalmology

Volumn 133, Issue 3, 2002, Pages 410-413

  Cruysberg, Johannes R M ^a   Eerola, Kirsti U ^b   Vrijland, Hans R ^c   Aandekerk, Albert L ^a   Kremer, Hubertus P H ^a   Deutman, August F ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b St Jans Gasthuis   (Netherlands)

^c Ignatius Hospital   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL FEATURE; CONGENITAL DISORDER; DEGENERATIVE DISEASE; DIAGNOSTIC TEST; DISEASE COURSE; FLUORESCENCE ANGIOGRAPHY; FRIEDREICH ATAXIA; GENETIC ANALYSIS; GLYCOSYLATION; HEREDITARY ATAXIA; HUMAN; MALE; MEDICAL LITERATURE; MOLECULAR GENETICS; MUTATION; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; PUBLICATION; RETINA MACULA DEGENERATION; RETINA MACULOPATHY; SIBLING;

EID: 0036182840     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)01333-2     Document Type: Article

References (7)

1. Atrophic maculopathy associated with hereditary ataxia
2. The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: Genetic and physical mapping of the SCA7 locus
3. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
4. Friedreich's ataxia: Autosomal recessive disease caused by an intonic GAA triplet repeat expansion
5. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases
6. Clinical features and classification of inherited ataxias