CEROID LIPOFUSCINOSIS, NEURONAL, 4B

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 4B?

Accepted Answer

rare
autosomal dominant
mutation in the DNAJC5 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN4B-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 162350

Question 4

Which enzymes are involved?

Accepted Answer

DnaJ homolog subfamily C member 5

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 4B
Synonym	CLN4B; KUFS DISEASE, AUTOSOMAL DOMINANT
OMIM	162350 OMIM = Online Mendelian Inheritance of Men
Orphanet	228343
Protein (UniProt)	DnaJ homolog subfamily C member 5
Gene locus	20q13.33
ICD	E75.4
Summary	rare autosomal dominant mutation in the DNAJC5 gene
Laboratory findings
Symptoms	abnormal movement ataxia behavior, abnormal or bizarre, confusion cerebellar atrophy or hypoplasia cerebral atrophy cognitive impairment dementia depression EEG abnormalities [-] Electron microscopy [-] extrapyramidal signs hypertonia, spasticity myoclonus onset, adulthood Parkinsonism seizures speech development, delayed, abnormal