Dejerine–Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene
✍ Scribed by Joanna Jen; Robert H. Baloh; Akira Ishiyama; Robert W. Baloh
- Book ID
- 119301738
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 155 KB
- Volume
- 237
- Category
- Article
- ISSN
- 0022-510X
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We studied a 25-year-old black woman with healthy parents and her 2-year, 11-month-old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelchair. Neurological evaluation showed severe weakness
## Abstract We report four novel point mutations in the __PMP22__ gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our fi
Dejerine-Sottas syndrome (DSS), or hereditary motor and sensory neuropathy (HMSN) type 111, is a severe hypertrophic demyelinating neuropathy with infantile onset. The clinical symptoms are similar to those found in Charcot-Marie-Tooth disease type 1 (CMT1) or HMSN type I patients, but they are more