Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations

Deborah Raymond; Rachel Saunders-Pullman; Patricia de Carvalho Aguiar; Birgitt Schule; Norman Kock; Jennifer Friedman; Juliette Harris; Blair Ford; Steven Frucht; Gary A. Heiman; Danna Jennings; Dana Doheny; Mitchell F. Brin; Deborah de Leon Brin; Trisha Multhaupt-Buell; Anthony E. Lang; Roger Kurlan; Christine Klein; Laurie Ozelius; Susan Bressman

doi:10.1002/mds.21785

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations

Deborah Raymond, Rachel Saunders-Pullman, Patricia de Carvalho Aguiar, Birgitt Schule, Norman Kock, Jennifer Friedman, Juliette Harris, Blair Ford, Steven Frucht, Gary A. Heiman, Danna Jennings, Dana Doheny, Mitchell F. Brin, Deborah de Leon Brin, Trisha Multhaupt-Buell, Anthony E. Lang, Roger Kurlan, Christine Klein, Laurie Ozelius, Susan Bressman

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

42 Scopus citations

Abstract

Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.

Original language	English (US)
Pages (from-to)	588-592
Number of pages	5
Journal	Movement Disorders
Volume	23
Issue number	4
DOIs	https://doi.org/10.1002/mds.21785
State	Published - Mar 15 2008

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

Keywords

Epsilon-sarcoglycan
Myoclonus dystonia
Phenotype
SGCE

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10.1002/mds.21785

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Raymond, D., Saunders-Pullman, R., de Carvalho Aguiar, P., Schule, B., Kock, N., Friedman, J., Harris, J., Ford, B., Frucht, S., Heiman, G. A., Jennings, D., Doheny, D., Brin, M. F., de Leon Brin, D., Multhaupt-Buell, T., Lang, A. E., Kurlan, R., Klein, C., Ozelius, L., & Bressman, S. (2008). Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations. Movement Disorders, 23(4), 588-592. https://doi.org/10.1002/mds.21785

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title = "Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations",

abstract = "Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.",

keywords = "Epsilon-sarcoglycan, Myoclonus dystonia, Phenotype, SGCE",

author = "Deborah Raymond and Rachel Saunders-Pullman and {de Carvalho Aguiar}, Patricia and Birgitt Schule and Norman Kock and Jennifer Friedman and Juliette Harris and Blair Ford and Steven Frucht and Heiman, {Gary A.} and Danna Jennings and Dana Doheny and Brin, {Mitchell F.} and {de Leon Brin}, Deborah and Trisha Multhaupt-Buell and Lang, {Anthony E.} and Roger Kurlan and Christine Klein and Laurie Ozelius and Susan Bressman",

year = "2008",

month = mar,

day = "15",

doi = "10.1002/mds.21785",

language = "English (US)",

volume = "23",

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journal = "Movement Disorders",

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publisher = "John Wiley and Sons Inc.",

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Raymond, D, Saunders-Pullman, R, de Carvalho Aguiar, P, Schule, B, Kock, N, Friedman, J, Harris, J, Ford, B, Frucht, S, Heiman, GA, Jennings, D, Doheny, D, Brin, MF, de Leon Brin, D, Multhaupt-Buell, T, Lang, AE, Kurlan, R, Klein, C, Ozelius, L & Bressman, S 2008, 'Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations', Movement Disorders, vol. 23, no. 4, pp. 588-592. https://doi.org/10.1002/mds.21785

TY - JOUR

T1 - Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations

AU - Raymond, Deborah

AU - Saunders-Pullman, Rachel

AU - de Carvalho Aguiar, Patricia

AU - Schule, Birgitt

AU - Kock, Norman

AU - Friedman, Jennifer

AU - Harris, Juliette

AU - Ford, Blair

AU - Frucht, Steven

AU - Heiman, Gary A.

AU - Jennings, Danna

AU - Doheny, Dana

AU - Brin, Mitchell F.

AU - de Leon Brin, Deborah

AU - Multhaupt-Buell, Trisha

AU - Lang, Anthony E.

AU - Kurlan, Roger

AU - Klein, Christine

AU - Ozelius, Laurie

AU - Bressman, Susan

PY - 2008/3/15

Y1 - 2008/3/15

N2 - Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.

AB - Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.

KW - Epsilon-sarcoglycan

KW - Myoclonus dystonia

KW - Phenotype

KW - SGCE

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JO - Movement Disorders

JF - Movement Disorders

IS - 4

ER -

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations

Abstract

All Science Journal Classification (ASJC) codes

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