Glycogen Storage Diseases

Gene: NHLRC1

Green List (high evidence)

Gene is involved in regulating glycogen synthesis. Abnormal intracellular glycogen accumulation is part of the pathogenesis of this disorder.

Well established gene-disease association, multiple families reported.

The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans.

Created: 6 Mar 2021, 6:36 a.m. | Last Modified: 6 Mar 2021, 6:40 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora) 254780

Publications

• 21505799
• 12958597