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Multiple sclerosis

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Neurodegenerative disorders with gene defects

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Other diseases

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Equipe VCDN Team VCDN Publications VCDN
Maladie d'Alzheimer Alzheimer's disease index Communication / documentation
Dégénérescence frontotemporale Neurological disorders Immunological tools

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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