Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.

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Publication Type Journal Article
School or College School of Medicine
Department Internal Medicine; Human Genetics; Anesthesiology; Pathology; Ophthalmology; Neurology
Creator Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J.
Title Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.
Date 1994-08
Description The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. We present a four-generation kindred of 42 individuals, 12 of whom were clinically affected with ADCA and an associated cone dystrophy. Early loss of color discrimination with retinal and macular signs is followed by gradual progression of cerebellar dysfunction and development of pyramidal signs. Pathology shows degeneration of cerebellum, basis pontis, inferior olive, and retinal ganglion cells. For genetic analysis, we used polymorphic markers D6S89 and D12S79; linkage analysis gave negative results, excluding linkage to both SCA1 and SCA2. The data strongly support genetic heterogeneity consistent with the unique clinicopathologic features of the form of ADCA displayed in this large family.
Type Text
Publisher Lippincott, Williams & Wilkins
Volume 44
Issue 8
First Page 1441
Last Page 1447
Subject Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis
Subject MESH Retinal Degeneration; Cerebellar Ataxia; Genetic Markers; Pedigree
Language eng
Bibliographic Citation Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology. 1994 Aug;44(8):1441-7. Retrieved on June 21,2007 from http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=44%5Bvolume%5D%20AND%208%5Bissue%5D%20AND%201441%5Bpage%5D%20AND%201994%5Bpdat%5D%20AND%20Digre%20KB%5Bauthor%5D
Rights Management Copyright © Wolters Kluwer, Neurology, 44, 1441-7, 1994
Format Medium application/pdf
Identifier ir-main,1616
ARK ark:/87278/s66q2fth
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2012-06-13
ID 706434
Reference URL https://collections.lib.utah.edu/ark:/87278/s66q2fth
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