Lafora disease

Lafora disease Autosomal recessive EPM2A, EPM2B... 

Additional causes of dementia are Lafora disease, neuronal ceroid lipofuscinosis, adrenoleukodystrophy, and others. Key histologic features of these diseases are outside the scope of this chapter and are covered in... 

Hematologic A 16-year-old girl with Lafora disease was found to be pancytopenic after starting levetiracetam 2000 mg/day [101 ]. The blood counts returned to normal 4 days after levetiracetam was withdrawn. 

Wang, J Stuckey, JA Wishart, MJ Dixon, JE. A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. J Biol Chem., 2002, 277(4), 2377-80. 

Gentry, MS Worby, CA Dixon, JE. Insights into Lafora disease Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. PNAS, 2005, 102(24), 8501-6. 

Lafora s disease manifest an accumulation of polyglucosan, in the CNS and PNS as well as in other tissues [1]. Lafora s disease is transmitted as an autosomal recessive trait and is characterized by epilepsy, myoclonus and dementia. Other neurological manifestations include ataxia, dysarthria, spasticity and rigidity. Onset is in adolescence, and death occurs in most patients before 25 years of age. 

The pathological hallmark of the disease is the presence in the brain of Lafora bodies round, basophilic, PAS-positive intracellular inclusions varying in size from small, dust-like bodies less than 3 nm in diameter to large bodies up to 30 nm in diameter. Lafora bodies are typically seen in neuronal perikarya and processes, not in glial cells, and are more abundant in cerebral cortex, substantia nigra, thalamus, globus pallidus and dentate nucleus. Ultrastructural studies have shown that Lafora bodies consist of two components amorphous electron-dense... 

Lafora s disease (H. Unverricht et al., 1891) is regarded as an autosomal recessive enzyme defect. A striking feature are the severe CNS disorders. The myocardium, liver and musculature are... 

Aydogan H, Yalign S, Karahan MA, Biiyiikfrat E. Pancytopenia associated with levetiracetam treatment in Lafora s disease. Blood Coagul... 

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