A new episodic ataxia syndrome with linkage to chromosome 19q13

Kevin A. Kerber; Joanna C. Jen; Hane Lee; Stanley F. Nelson; Robert W. Baloh

doi:10.1001/archneur.64.5.749

A new episodic ataxia syndrome with linkage to chromosome 19q13

Kevin A. Kerber, Joanna C. Jen, Hane Lee, Stanley F. Nelson, Robert W. Baloh

Research output: Contribution to journal › Article › peer-review

53 Scopus citations

Abstract

Background: Multiple episodic ataxia phenotypes and genotypes have been described. Objective: To describe a new episodic ataxia syndrome. Design: Genomewide linkage analysis with dense single nucleotide polymorphism arrays. Setting: University clinic. Patients: Family with lifelong episodes of ataxia and normal interictal examination results. Results: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13. Conclusion: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.

Original language	English
Pages (from-to)	749-752
Number of pages	4
Journal	Archives of Neurology
Volume	64
Issue number	5
DOIs	https://doi.org/10.1001/archneur.64.5.749
State	Published - May 2007
Externally published	Yes

Access to Document

10.1001/archneur.64.5.749

Cite this

@article{d45fb5d69d3c45cbbdcbd1d935cfa042,

title = "A new episodic ataxia syndrome with linkage to chromosome 19q13",

abstract = "Background: Multiple episodic ataxia phenotypes and genotypes have been described. Objective: To describe a new episodic ataxia syndrome. Design: Genomewide linkage analysis with dense single nucleotide polymorphism arrays. Setting: University clinic. Patients: Family with lifelong episodes of ataxia and normal interictal examination results. Results: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13. Conclusion: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.",

author = "Kerber, {Kevin A.} and Jen, {Joanna C.} and Hane Lee and Nelson, {Stanley F.} and Baloh, {Robert W.}",

year = "2007",

month = may,

doi = "10.1001/archneur.64.5.749",

language = "English",

volume = "64",

pages = "749--752",

journal = "Archives of Neurology",

issn = "0003-9942",

publisher = "American Medical Association",

number = "5",

}

TY - JOUR

T1 - A new episodic ataxia syndrome with linkage to chromosome 19q13

AU - Kerber, Kevin A.

AU - Jen, Joanna C.

AU - Lee, Hane

AU - Nelson, Stanley F.

AU - Baloh, Robert W.

PY - 2007/5

Y1 - 2007/5

N2 - Background: Multiple episodic ataxia phenotypes and genotypes have been described. Objective: To describe a new episodic ataxia syndrome. Design: Genomewide linkage analysis with dense single nucleotide polymorphism arrays. Setting: University clinic. Patients: Family with lifelong episodes of ataxia and normal interictal examination results. Results: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13. Conclusion: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.

AB - Background: Multiple episodic ataxia phenotypes and genotypes have been described. Objective: To describe a new episodic ataxia syndrome. Design: Genomewide linkage analysis with dense single nucleotide polymorphism arrays. Setting: University clinic. Patients: Family with lifelong episodes of ataxia and normal interictal examination results. Results: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13. Conclusion: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.

UR - http://www.scopus.com/inward/record.url?scp=34248995041&partnerID=8YFLogxK

U2 - 10.1001/archneur.64.5.749

DO - 10.1001/archneur.64.5.749

M3 - Article

C2 - 17502476

AN - SCOPUS:34248995041

SN - 0003-9942

VL - 64

SP - 749

EP - 752

JO - Archives of Neurology

JF - Archives of Neurology

IS - 5

ER -

A new episodic ataxia syndrome with linkage to chromosome 19q13

Abstract

Access to Document

Fingerprint

Cite this