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Spastic paraplegia "4," 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: ...
- ... Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 PubMed Blackstone C. Hereditary spastic paraplegia. Handb ...
- ... of 10; the average age of onset is 4 years. In some affected individuals the condition slowly ... as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence ...
- ... like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta-4A chain isoform 1 tubulin ...
- ... spastic paraplegia 31 Genetic Testing Registry: Hereditary spastic paraplegia Autosomal dominant spastic paraplegia type 31 Hereditary spastic paraplegia National ...
- ... 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 ...
- ... symptoms of the condition.In rare cases, spastic paraplegia type 7 is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 ...
- ... and in controlled cell death (apoptosis). At least four mutations in the OPA3 gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly ...
