CEROID LIPOFUSCINOSIS, NEURONAL, 2

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 2?

Accepted Answer

rare
autosomal recessive
mutation in the TPP1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN2-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 204500

Question 4

Which enzymes are involved?

Accepted Answer

Tripeptidyl-peptidase 1

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 2
Synonym	CLN2; JANSKY-BIELSCHOWSKY DISEASE
OMIM	204500 OMIM = Online Mendelian Inheritance of Men
Orphanet	228349
Protein (UniProt)	Tripeptidyl-peptidase 1
ExPASy	3.4.14.9
Gene locus	11p15.4
ICD	E75.4
Summary	rare autosomal recessive mutation in the TPP1 gene
Laboratory findings
Symptoms	abnormal movement ataxia blindness, visual loss, visual impairment cerebral atrophy developmental regression dystonia EEG abnormalities [-] epilepsy MRI, brain, white matter abnormalities [-] myoclonus onset, infancy optic atrophy retinal or macular degeneration retinopathy seizures seizures, tonic clonic SEP (sensory evoked potentials), abnormal speech development, delayed, abnormal VEP (visual evoked potentials), abnormal white matter changes, abnormalities