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News:
Molecular Genetics - Neurodegenerative Disorders
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disease
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OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
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Neurodegenerative Disorders
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Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
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Andermann Syndrome
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KCC3/SLC12A6
(K / S)
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15q13-q14
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CADASIL Syndrome
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19p13.2-p13.1
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Spinal and Bulbar Muscular Atrophy / Kennedy Disease
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Xq11-q12
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Spastic Paraplegia 4, autosomal dominant
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2p22-p21
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Spastic Papaplegia 11, autosomal rezessive
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(K)
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15q13-q15
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Spastic Paraplegia 20 / Troyer Syndrome, autosomal rezessive
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13q12.3
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¹
Routinely analysis is performed by sequencing, additional methods are indicated as follows:
FISH
Fluorescence in situ Hybridisation
FI
3 kb-founder-insertion