CEROID LIPOFUSCINOSIS, NEURONAL, 4A

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 4A?

Accepted Answer

rare
autosomal recessive
mutation in the CLN6 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN4A-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 204300

Question 4

Which enzymes are involved?

Accepted Answer

Ceroid-lipofuscinosis neuronal protein 6

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 4A
Synonym	CLN4A; KUFS DISEASE
OMIM	204300 OMIM = Online Mendelian Inheritance of Men
Orphanet	228340
Protein (UniProt)	Ceroid-lipofuscinosis neuronal protein 6
Gene locus	15q23
ICD	E75.4
Summary	rare autosomal recessive mutation in the CLN6 gene
Laboratory findings
Symptoms	abnormal movement ataxia behavior, abnormal or bizarre, confusion cerebral atrophy cognitive impairment dementia depression Electron microscopy [-] epilepsy extrapyramidal signs MRI, brain, abnormalities [-] myoclonus onset, adulthood seizures