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Lafora bodies

MedGen UID:
569348
Concept ID:
C0333749
Cell Component
Synonym: Lafora body
SNOMED CT: Lafora body (87554006)
 
HPO: HP:0100318

Definition

An intraneuronal inclusion body composed of acid mucopolysaccharides. [from HPO]

Conditions with this feature

Lafora disease
MedGen UID:
155631
Concept ID:
C0751783
Disease or Syndrome
Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease [LD]) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus beginning in previously healthy individuals at age eight to 19 years (peak 14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic seizures, and focal seizures with impaired awareness may occur. The course of the disease is characterized by increasing frequency and intractability of seizures. Status epilepticus with any of the seizure types is common. Cognitive decline becomes apparent at or soon after the onset of seizures. Dysarthria and ataxia appear early while spasticity appears late. Emotional disturbance and confusion are common in the early stages of the disease and are followed by dementia. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.
Early-onset Lafora body disease
MedGen UID:
907932
Concept ID:
C4225258
Disease or Syndrome
Progressive myoclonic epilepsy-10 (EPM10) is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).

Professional guidelines

PubMed

Austin GL, Simmons ZR, Klier JE, Rondon A, Hodges BL, Shaffer R, Aziz NM, McKnight TR, Pauly JR, Armstrong DD, Vander Kooi CW, Gentry MS
Mol Pharm 2019 Sep 3;16(9):3791-3801. Epub 2019 Aug 2 doi: 10.1021/acs.molpharmaceut.9b00396. PMID: 31329461Free PMC Article
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA
Nat Rev Neurol 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. PMID: 30143794Free PMC Article
Parihar R, Rai A, Ganesh S
J Genet 2018 Jul;97(3):611-624. PMID: 30027899

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