Kennedy's disease: clinical and molecular study of two Italian families.

D. Pareyson; B. Castellotti; S. Botti; C. A. Defanti; C. Gellera; F. Taroni; A. Sghirlanzoni

Kennedy's disease: clinical and molecular study of two Italian families.

D. Pareyson, B. Castellotti, S. Botti, C. A. Defanti, C. Gellera, F. Taroni, A. Sghirlanzoni

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.

Original language	English
Pages (from-to)	467-471
Number of pages	5
Journal	Italian Journal of Neurological Sciences
Volume	16
Issue number	7
Publication status	Published - Oct 1995

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

Cite this

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title = "Kennedy's disease: clinical and molecular study of two Italian families.",

abstract = "Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.",

author = "D. Pareyson and B. Castellotti and S. Botti and Defanti, {C. A.} and C. Gellera and F. Taroni and A. Sghirlanzoni",

year = "1995",

month = oct,

language = "English",

volume = "16",

pages = "467--471",

journal = "Italian Journal of Neurological Sciences",

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T1 - Kennedy's disease

T2 - clinical and molecular study of two Italian families.

AU - Pareyson, D.

AU - Castellotti, B.

AU - Botti, S.

AU - Defanti, C. A.

AU - Gellera, C.

AU - Taroni, F.

AU - Sghirlanzoni, A.

PY - 1995/10

Y1 - 1995/10

N2 - Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.

AB - Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.

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M3 - Article

C2 - 8749704

SN - 0392-0461

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SP - 467

EP - 471

JO - Italian Journal of Neurological Sciences

JF - Italian Journal of Neurological Sciences

IS - 7

ER -

Kennedy's disease: clinical and molecular study of two Italian families.

Abstract

ASJC Scopus subject areas

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