Seipin-related motor neurone diseases
Evidence-based neurology checklist on seipin-related motor neurone diseases: Genetics and pathology These are caused by mutations in the seipin (BSCL) gene Seipin is an endoplasmic reticulum (ER)-resident membrane protein The transmission is autosomal dominant The disorders affect upper and lower…
Genetics and pathology
- These are caused by mutations in the seipin (BSCL) gene
- Seipin is an endoplasmic reticulum (ER)-resident membrane protein
- The transmission is autosomal dominant
- The disorders affect upper and lower motor neurones
Seipinopathies
References
- Ito D, Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 2009; 132:8-15.
- Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, et al; Austrian Peripheral Neuropathy Study Group. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 2005; 57:415-424.
- Irobi J, Van den Bergh P, Merlini L, et al. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 2004; 127:2124-2130.
- Opri R, Fabrizi GM, Cantalupo G, et al. Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review. Seizure 2016; 42:1-6.
- Poisson A, Chatron N, Labalme A, et al. Regressive autism spectrum disorder expands the phenotype of BSCL2/seipin-associated neurodegeneration. Biol Psychiatry 2018; pii: S0006-3223(18)31524-5.
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