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GENATLAS PHENOTYPE

last update : 18/10/2008

Symbol	CLN10
Location	11p15.5
Name	ceroid-lipofuscinosis, neuronal, 10
Other name(s)	cathepsin D deficiency, neuronal ceroid lipofuscinosis
Corresponding gene	CTSD
Other symbol(s)	CTSDD
Main clinical features	normal early psychomotor development, ataxia and visual disturbances, at early-school age; retinitis pigmentosa at ocular fundus, and cerebral and cerebellar atrophy at cranial magnetic resonance imaging (MRI) scans, progressive cognitive decline, loss of speech, retinal atrophy, and loss of motor functions
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	leads to disturbed posttranslational processing, intracellular mistargeting, and complete loss of proteolytic activity

Remark(s)