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Autopsy‐proven Huntington's disease with 29 trinucleotide repeats

Autopsy‐proven Huntington's disease with 29 trinucleotide repeats As clinicians who perform genetic tests for the diagnosis of Huntington's disease (HD), we agree with Drs. Kenny, Powell, and Jankovic that we should use caution in ruling out HD when less than 36 CAG repeats are identified in the huntingtin gene. 1 Allelic comparisons with the parent whose HD gene has been inherited is especially important in this regard. If the HD allele does not correspond with the parental gene, then repeating the genetic test is wise. Normal shifts in expansions or contractions of CAG repeat size from 1 to 5 repeats is not a cause for concern. 2 Inheritance of larger CAG repeat expansions is thought to occur from meiotic instability during gametogenesis, 3 occurring more commonly in paternal than in maternal transmission. 4 This may lead to an earlier onset of phenotypic conversion (“anticipation”). Although Drs. Kenny, Powell, and Jankovic carefully review a differential diagnosis for their case of autopsy verified HD, they fail to report any attempt to clarify the validity of the CAG repeat value of 29 attributed to their patient. Furthermore, to attribute paternal anticipation to the patient's son with CAG repeat sizes of 32 and 19 is quantitatively untenable. Without reassurance http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Movement Disorders Wiley

Autopsy‐proven Huntington's disease with 29 trinucleotide repeats

Movement Disorders , Volume 23 (12) – Sep 15, 2008

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References (22)

Publisher
Wiley
Copyright
Copyright © 2008 Movement Disorder Society
ISSN
0885-3185
eISSN
1531-8257
DOI
10.1002/mds.21821
pmid
18548610
Publisher site
See Article on Publisher Site

Abstract

As clinicians who perform genetic tests for the diagnosis of Huntington's disease (HD), we agree with Drs. Kenny, Powell, and Jankovic that we should use caution in ruling out HD when less than 36 CAG repeats are identified in the huntingtin gene. 1 Allelic comparisons with the parent whose HD gene has been inherited is especially important in this regard. If the HD allele does not correspond with the parental gene, then repeating the genetic test is wise. Normal shifts in expansions or contractions of CAG repeat size from 1 to 5 repeats is not a cause for concern. 2 Inheritance of larger CAG repeat expansions is thought to occur from meiotic instability during gametogenesis, 3 occurring more commonly in paternal than in maternal transmission. 4 This may lead to an earlier onset of phenotypic conversion (“anticipation”). Although Drs. Kenny, Powell, and Jankovic carefully review a differential diagnosis for their case of autopsy verified HD, they fail to report any attempt to clarify the validity of the CAG repeat value of 29 attributed to their patient. Furthermore, to attribute paternal anticipation to the patient's son with CAG repeat sizes of 32 and 19 is quantitatively untenable. Without reassurance

Journal

Movement DisordersWiley

Published: Sep 15, 2008

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