Ceroid Lipofuscinosis, Neuronal, 5

Alternative Names

CLN5
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age at Onset
Neuronal Ceroid Lipofuscinosis, Late Infantile, Finnish Variant
Finnish vLINCL

Associated Genes

CLN5 Intracellular Trafficking Protein

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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

256731

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q22.3

Description

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure. [From OMIM]

Epidemiology in the Arab World

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Saudi Arabia

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
256731.1	Saudi Arabia	Female			Intellectual disability; Brain atrophy; ... Intellectual disability; Brain atrophy; Seizure; Specific learning disability	NM_006493.4:c.448C>T	Homozygous	Autosomal, Recessive	Monies et al. 2017
256731.2	Saudi Arabia	Female		Yes	Seizure; Failure to thrive; Motor delay;... Seizure; Failure to thrive; Motor delay; Delayed speech and language development; Global developmental delay; Abnormal facial shape; Microcephaly; Developmental regression	NM_006493.4:c.448C>T, NM_006493.4:c.510_514dup	Heterozygous	Autosomal, Recessive	Monies et al. 2017