NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP (SQSTM1)

Question 1

What is  NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP (SQSTM1)?

Accepted Answer

rare

autosomal recessive

mutation in the SQSTM1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617145

Question 3

Which enzymes are involved?

Accepted Answer

Sequestosome-1

Disease	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP (SQSTM1)
OMIM	617145 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Sequestosome-1
Gene locus	5q35.3
ICD
Summary	rare autosomal recessive mutation in the SQSTM1 gene
Laboratory findings
Symptoms	ataxia cerebellar atrophy or hypoplasia cognitive impairment dysarthria dystonia gait disturbance hearing defect, deafness hyperreflexia MRI, brain, abnormalities [-] nystagmus onset, adolescent onset, childhood tremor or twitching