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. Neurodegenerative disorders with gene defectsOther diseases
Neurodegenerative diseases with triplet repeats expansion:
UF de Neurobiologie, Laboratoire de Biochimie et Biologie moléculaire, Hopital R.Salengro Bd du Pr Leclerc. 59037 LILLE, France Tél: 33320446173 Fax:33320446919 Manager: Professor B.Sablonniere (M.D, Ph.D.) Assistants: Docteur N.Emery (Ph.D) Docteur S.Schraen (Ph.D) Docteur I.Vuillaume (M.D)
1.Molecular DNA tests used for diagnosis:*Neurodegenerative diseases with triplet repeats expansion:- Huntington Disease (HD) - Spinocerebellar Ataxia: type I and II (SCA1,SCA2,SCA3,SCA6,SCA7) - Friedreich's Ataxia (GAA repeat expansion) - Dentatorubral and pallidoluysian atrophy (DRPLA) - Spinobulbar and Muscular Atrophy (SBMA) *Neuromuscular Disorders:- Spinal and muscular Atrophy (SMN gene) - Myotonic Dystrophy (CTG repeat expansion) - Charcot-Marie-Tooth Disease: type 1A ( PMP22 gene duplication) - Hereditary Neuropathy with Pressure Palsies (HNPP), ( PMP22 gene deletion) 2. Western blot analysis of muscular proteins:- Duchenne and Becker Muscular Dystrophy (dystrophin) -Sarcoglycanopathies (adhalin and other sarcoglycans) - Congenital Muscular Dystrophy (Mérosine) 3. Enzymatic screening:-Enzymatic complexes of the mitochondrial respiratory chain. (from muscular biopsies) |
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