Spinocerebellar ataxia: Localization of an autosomal dominant locus between two markers on human chromosome 6

S. S. Rich, P. Wilkie, L. Schut, G. Vance, H. T. Orr

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Inhertied spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex - in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region ~ 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.

Original languageEnglish (US)
Pages (from-to)524-531
Number of pages8
JournalAmerican Journal of Human Genetics
Volume41
Issue number4
StatePublished - Dec 1 1987

Fingerprint

Spinocerebellar Ataxias
Chromosomes, Human, Pair 6
Human Chromosomes
Cerebellar Cortex
HLA-A Antigens
Purkinje Cells

Cite this

Spinocerebellar ataxia : Localization of an autosomal dominant locus between two markers on human chromosome 6. / Rich, S. S.; Wilkie, P.; Schut, L.; Vance, G.; Orr, H. T.

In: American Journal of Human Genetics, Vol. 41, No. 4, 01.12.1987, p. 524-531.

Research output: Contribution to journalArticle

@article{6f7e32c22c9a400f99167d9efbcb2022,
title = "Spinocerebellar ataxia: Localization of an autosomal dominant locus between two markers on human chromosome 6",
abstract = "Inhertied spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex - in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region ~ 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.",
author = "Rich, {S. S.} and P. Wilkie and L. Schut and G. Vance and Orr, {H. T.}",
year = "1987",
month = "12",
day = "1",
language = "English (US)",
volume = "41",
pages = "524--531",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

}

TY - JOUR

T1 - Spinocerebellar ataxia

T2 - Localization of an autosomal dominant locus between two markers on human chromosome 6

AU - Rich, S. S.

AU - Wilkie, P.

AU - Schut, L.

AU - Vance, G.

AU - Orr, H. T.

PY - 1987/12/1

Y1 - 1987/12/1

N2 - Inhertied spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex - in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region ~ 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.

AB - Inhertied spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex - in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region ~ 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.

UR - http://www.scopus.com/inward/record.url?scp=0023612410&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023612410&partnerID=8YFLogxK

M3 - Article

C2 - 3477955

AN - SCOPUS:0023612410

VL - 41

SP - 524

EP - 531

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -