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Screening of patients with hereditary spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy

✍ Scribed by B. H. Holmberg; E. Hägg; M. Duchek; L Hagenfeldt

Book ID
114783578
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
286 KB
Volume
85
Category
Article
ISSN
0001-6314

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Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr