What is CEROID LIPOFUSCINOSIS, NEURONAL, 5?

rare autosomal recessive mutation in the CLN5 gene

Which enzymes are involved?

Ceroid-lipofuscinosis neuronal protein 5

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 5
Synonym	CLN5; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED
OMIM	256731 OMIM = Online Mendelian Inheritance of Men
Orphanet	228360
Protein (UniProt)	Ceroid-lipofuscinosis neuronal protein 5
Gene locus	13q22.3
ICD	E75.4
Summary	rare autosomal recessive mutation in the CLN5 gene
Laboratory findings
Symptoms	abnormal movement ataxia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental regression dysarthria EEG abnormalities [-] Electron microscopy [-] epilepsy macular dystrophy mental retardation MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] myoclonus nystagmus onset, adolescent onset, childhood optic atrophy retinal atrophy seizures SEP (sensory evoked potentials), abnormal speech development, delayed, abnormal VEP (visual evoked potentials), abnormal white matter changes, abnormalities