Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

M. A. Nance; V. Mathias-Hagen; G. Breningstall; M. J. Wick; R. C. McGlennen

doi:10.1212/wnl.52.2.392

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

M. A. Nance, V. Mathias-Hagen, G. Breningstall, M. J. Wick, R. C. McGlennen

Obstetrics/Gynecology

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

81 Scopus citations

Abstract

A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.

Original language	English (US)
Pages (from-to)	392-394
Number of pages	3
Journal	Neurology
Volume	52
Issue number	2
DOIs	https://doi.org/10.1212/wnl.52.2.392
State	Published - Jan 15 1999

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/wnl.52.2.392

Cite this

@article{49d7bd3d3c20437cbcc5a00ea0490e78,

title = "Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease",

abstract = "A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.",

author = "Nance, {M. A.} and V. Mathias-Hagen and G. Breningstall and Wick, {M. J.} and McGlennen, {R. C.}",

year = "1999",

month = jan,

day = "15",

doi = "10.1212/wnl.52.2.392",

language = "English (US)",

volume = "52",

pages = "392--394",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "2",

}

TY - JOUR

T1 - Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

AU - Nance, M. A.

AU - Mathias-Hagen, V.

AU - Breningstall, G.

AU - Wick, M. J.

AU - McGlennen, R. C.

PY - 1999/1/15

Y1 - 1999/1/15

N2 - A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.

AB - A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.

UR - http://www.scopus.com/inward/record.url?scp=0033556344&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033556344&partnerID=8YFLogxK

U2 - 10.1212/wnl.52.2.392

DO - 10.1212/wnl.52.2.392

M3 - Article

C2 - 9932964

AN - SCOPUS:0033556344

SN - 0028-3878

VL - 52

SP - 392

EP - 394

JO - Neurology

JF - Neurology

IS - 2

ER -

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this