Review Note

Last Update: 04/01/2024 02:31 AM

Current Deck: Neurology::RITE

Published

Lafora disease:

inheritance? {{c1::autosomal recessive::inheritance pattern}}
pathologic hallmark? {{c2::inclusion bodies within cytoplasm heart, liver, muscle, and skin::what do you see on path}}
what type of disorder? impairment in the development of cerebral cortical neurons and is a {{c5::glycogen}} metabolism disorder
major clinical features? {{c3::neurodegeneration. myoclonic epilepsy::2 features}}
onset? prognosis? {{c4::adolescence, death several years after onset}}{{c4::}}

Aggregates of polyglucosan (long, insoluble strands of glycogen) in the apocrine and eccrine glands are found on skin biopsy of patients with Lafora disease with the use of periodic acid‒Schiff staining.
Lafora disease is another progressive myoclonic epilepsy.
It is caused by mutations in either the EPM2A gene, which encodes laforin, or the NHLRC1 gene (previously known as EPM2B), which encodes malin.
Lafora disease manifests in adolescence.
Visual seizures are often the first sign.
In addition to focal seizures arising from the occipital region, patients have GTC and myoclonic seizures. Dementia occurs early.

Lafora bodies