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Summary
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET NADGP (SQSTM1)
617145
OMIM = Online Medalian Inheritance of Men
5q35.3
rare
autosomal recessive
mutation in the SQSTM1 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cognitive impairment
dysarthria
dystonia
gait disturbance
hearing defect, deafness
hyperreflexia
nystagmus
onset, adolescent
onset, childhood
tremor or twitching
laboratory finding
MRI, brain, abnormalities -
Literature
Chen YZ,et al.Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5Chin Med J (Engl)123223326-33332010
Byers HM,et al.Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesJIMD Rep3001092016
Kotalova R,et al.Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature reviewWorld J Gastroenterol2182550-25572015