Maternal anticipation in Machado-Joseph disease (MJD) : some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family

TAKIYAMA, Y ; SHIMAZAKI, H ; et al.

In: Journal of the neurological sciences, Jg. 155 (1998), Heft 2, S. 141-145

academicJournal - print, 23 ref

We studied the relationship between the number of CAG repeat units in the MJDI gene and clinical features of Machado-Joseph disease (MJD) in eight patients from two generations of a Japanese MJD family. Because of lack of characteristic clinical signs of MJD such as dystonia, bulging eyes or facial myokymia, clinical diagnosis of MJD in this family was difficult to make prior to molecular testing for the CAG repeat expansion in the MJDI gene. All the patients exhibited maternal transmission of MJD, and the intergenerational change in the number of CAG repeat units in the MJDI gene was very small (+0.5±0.3, mean±S.E.M., n=4) in spite of marked genetic anticipation (-17.0 years/generation). In the present family, the degree of anticipation per repeat unit in maternal transmissions was much larger than that in maternal transmissions in the other six MJD families. This indicates that some maternal factors other than the increase of the number of CAG repeat units, which is known to be the basis of anticipation, may play a role in genetic anticipation in this MJD family.

Titel:	Maternal anticipation in Machado-Joseph disease (MJD) : some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family
Autor/in / Beteiligte Person:	TAKIYAMA, Y ; SHIMAZAKI, H ; TSUJI, S ; SASAKI, H ; WAKISAKA, A ; NAKANO, I ; NISHIZAWA, M ; MORITA, M ; SOUTOME, M ; SAKOE, K ; ESUMI, E ; MURAMATSU, S.-I ; YOSHIDA, M ; IGARASHI, S ; TANAKA, H
Link:	E-Journal im Bestand der UB Hagen? View record from PASCAL Archive
Zeitschrift:	Journal of the neurological sciences, Jg. 155 (1998), Heft 2, S. 141-145
Veröffentlichung:	Shannon: Elsevier Science, 1998
Medientyp:	academicJournal
Umfang:	print, 23 ref
ISSN:	0022-510X (print)
Schlagwort:	Neurology Neurologie Sciences biologiques et medicales Biological and medical sciences Sciences medicales Medical sciences Maladies dégénératives et hérédodégénératives du système nerveux. Leucodystrophies. Maladies à prions Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Encéphale pathologie Cerebral disorder Encéfalo patología Maladie dégénérative Degenerative disease Enfermedad degenerativa Maladie héréditaire Genetic disease Enfermedad hereditaria Moelle épinière pathologie Spinal cord disease Médula espinal patología Système nerveux central pathologie Central nervous system disease Sistema nervosio central patología Système nerveux pathologie Nervous system diseases Sistema nervioso patología Anticipation Anticipación Biologie moléculaire Molecular biology Biología molecular Déterminisme génétique Genetic determinism Determinismo genético Etude familiale Family study Estudio familiar Gène Gene Gen Génétique Genetics Genética Homme Human Hombre Hérédodégénérescence spinocérébelleuse Spinocerebellar heredodegeneration Heredodegeneración espinocerebelosa Japonais Japanese Japonés Séquence répétée Repeated sequence Secuencia repetida Transmission mère enfant Mother to child transmission Transmisión madre niño Trinucléotide Trinucleotide Trinucleótido Machado Joseph maladie
Sonstiges:	Nachgewiesen in: PASCAL Archive Sprachen: English Original Material: INIST-CNRS Document Type: Article File Description: text Language: English Author Affiliations: Department of Neurology, Jichi Medical School, Tochigi 329-04, Japan ; Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951, Japan ; Department of Neurology, Hokkaido University School of Medicine, Sapporo 060, Japan ; Department of Pathology, Hokkaido University School of Medicine, Sapporo 060, Japan Rights: Copyright 1998 INIST-CNRS ; CC BY 4.0 ; Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS Notes: Neurology

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