Hereditary spastic paraplegia type 35 (SPG35)
Evidence-based neurology checklist on hereditary spastic paraplegia type 35 (spg35): Genetics This is caused by mutations in the FA2H gene on chromosome 16q The transmission is autosomal recessive The onset age is 5-22 years Clinical features Ophthalmic features Magnetic resonance imaging (MRI)…
Genetics
- This is caused by mutations in the FA2H gene on chromosome 16q
- The transmission is autosomal recessive
- The onset age is 5-22 years
Clinical features
Ophthalmic features
Magnetic resonance imaging (MRI) brain: features
References
- Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016; 139:1904-1918.
- Dick KJ, Al-Mjeni R, Baskir W, et al. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 2008; 71:248-252.
- Rattay TW, Lindig T, Baets J, et al. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain 2019; 142:1561-1572.
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