What type of mutation causes Lafora disease?
Most cases of Lafora disease are caused by changes ( mutations ) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain.
What disease is Laforin associated with?
| Lafora disease | |
|---|---|
| Causes | Mutation in either the EMP2A or EMP2 genes |
| Differential diagnosis | Other progressive myoclonic epilepsies (sialidosis, myoclonic epilepsy with ragged red fibers, Unverricht-Lundborg disease), Juvenile Myoclonic Epilepsy, Subacute sclerosing panencephalitis, schizophrenia |
What are the symptoms of Lafora?
The first 2–3 years of Lafora disease are characterized by the following symptoms:
- Ataxia.
- Confusion.
- Depression.
- Grand mal seizures.
- Staring spells and/or absence seizures.
- Drop in school performance.
- Drop attacks.
- Myoclonus.
What are the symptoms of lafora?
What type of mutation is Laforin?
Laforin, encoded by the EPM2A gene, is a phosphatase, with a carbohydate-binding domain, which is mutated in patients with Lafora disease. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20 (CBM20).
What is the chromosome for EPM2A?
The EPM2A gene maps to chromosome 6q24 (Minassian et al., 1998).
What is the cause of Lafora disease?
Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The absence of either protein results in poorly branched, hyperphosphorylated glycogen, which precipitates, aggregates and accumulates into Lafora bodies.
How is Sialidosis diagnosed?
A diagnosis of sialidosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. An examination of urine may reveal increased levels of oligosaccharides.