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Spastic "paraplegia," autosomal dominant
- ... Health Condition ADPSP FSP2 KIAA1083 SPAST_HUMAN spastic paraplegia 4 (autosomal dominant; spastin) SPG4 Tests of SPAST PubMed SPASTIN; SPAST NCBI Gene ClinVar Blackstone C. Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633-652. doi: ...
- ... Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 ...
- ... Condition Variants in the ALDH18A1 gene can cause autosomal dominant spastic paraplegia type 9A (SPG9A) and autosomal recessive spastic paraplegia type 9B (SPG9B). These conditions ...
- ... Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ...
- ... TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta- ... DN, Kalaydjieva L, Tournev I, Jordanova A. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
- ... the OPA3 gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly ... problems.Mutations in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy ...
