The first identified French family with dentatorubral-pallidoluysian atrophy
Identifieur interne : 002B71 ( PascalFrancis/Corpus ); précédent : 002B70; suivant : 002B72The first identified French family with dentatorubral-pallidoluysian atrophy
Auteurs : Alain Destee ; Isabelle Delalande ; Isabelle Vuillaume ; Susanna Schraen-Maschke ; Luc Defebvre ; Bernard SablonniereSource :
- Movement disorders [ 0885-3185 ] ; 2000.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 00-0478887 INIST |
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ET : | The first identified French family with dentatorubral-pallidoluysian atrophy |
AU : | DESTEE (Alain); DELALANDE (Isabelle); VUILLAUME (Isabelle); SCHRAEN-MASCHKE (Susanna); DEFEBVRE (Luc); SABLONNIERE (Bernard) |
AF : | Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro/Lille/France (1 aut., 2 aut., 5 aut.); UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro/Lille/France (3 aut., 4 aut., 6 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 5; Pp. 996-999; Bibl. 13 ref. |
LA : | Anglais |
EA : | We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population. |
CC : | 002B17G |
FD : | Atrophie dentatorubropallidoluysienne; Français; Caucasoïde; Pénétrance génique; Etude familiale; Déterminisme génétique; Biologie moléculaire; Adulte; Mâle; Femelle |
FG : | Homme; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Maladie dégénérative |
ED : | Dentatorubropallidoluysian atrophy; French; Caucasoid; Gene penetrance; Family study; Genetic determinism; Molecular biology; Adult; Male; Female |
EG : | Human; Nervous system diseases; Central nervous system disease; Cerebral disorder; Degenerative disease |
SD : | Atrofia dentatorubropallidoluysiana; Francés; Caucásico; Penetrancia génica; Estudio familiar; Determinismo genético; Biología molecular; Adulto; Macho; Hembra |
LO : | INIST-20953.354000091356830350 |
ID : | 00-0478887 |
Links to Exploration step
Pascal:00-0478887Le document en format XML
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<front><div type="abstract" xml:lang="en">We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</div>
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<server><NO>PASCAL 00-0478887 INIST</NO>
<ET>The first identified French family with dentatorubral-pallidoluysian atrophy</ET>
<AU>DESTEE (Alain); DELALANDE (Isabelle); VUILLAUME (Isabelle); SCHRAEN-MASCHKE (Susanna); DEFEBVRE (Luc); SABLONNIERE (Bernard)</AU>
<AF>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro/Lille/France (1 aut., 2 aut., 5 aut.); UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro/Lille/France (3 aut., 4 aut., 6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 5; Pp. 996-999; Bibl. 13 ref.</SO>
<LA>Anglais</LA>
<EA>We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</EA>
<CC>002B17G</CC>
<FD>Atrophie dentatorubropallidoluysienne; Français; Caucasoïde; Pénétrance génique; Etude familiale; Déterminisme génétique; Biologie moléculaire; Adulte; Mâle; Femelle</FD>
<FG>Homme; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Maladie dégénérative</FG>
<ED>Dentatorubropallidoluysian atrophy; French; Caucasoid; Gene penetrance; Family study; Genetic determinism; Molecular biology; Adult; Male; Female</ED>
<EG>Human; Nervous system diseases; Central nervous system disease; Cerebral disorder; Degenerative disease</EG>
<SD>Atrofia dentatorubropallidoluysiana; Francés; Caucásico; Penetrancia génica; Estudio familiar; Determinismo genético; Biología molecular; Adulto; Macho; Hembra</SD>
<LO>INIST-20953.354000091356830350</LO>
<ID>00-0478887</ID>
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