Lethal arthrogryposis with anterior horn cell disease
Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive condition characterized by reduced mobility of the foetus and early death. LAAHD resembles LCCS1 disease but the phenotype is milder with survival beyond 32th gestational week. However, the foetuses are often stillborn or survive only few minutes. The movements of the foetus during pregnancy are scanty and stiff, often only in upper limbs. The malpositions are distal, inwards spiral and especially the elbow contractures are less severe than in LCCS1 disease. Some patients have intrauterine long bone fractures. Skeletal muscles are affected and show neurogenic atrophy. The size and shape of spinal cord at different levels are normal but anterior horn motoneurons are diminished in number and degenerated.[1]
Population genetics
LAAHD belongs to Finnish heritage of diseases consisting approximately 40 diseases. The families come from different parts of Finland and birthplaces of the ancestors of affected individuals do not show geographic clustering.
Molecular genetics
The disease results from compound heterozygosity of GLE1FinMajor and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16 ( seven cases in 3 families). One of the latter cases survived 12 weeks, mostly under artificial respiration.[2]
References
- ^ Vuopala K, Ignatius J, Herva R (1995). "Lethal arthrogryposis with anterior horn cell disease". Hum Pathol. 26: 12–19.
{{cite journal}}: Cite has empty unknown parameter:|month=(help)CS1 maint: multiple names: authors list (link) - ^ Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (2008). "Mutations in mRNA export mediator gene GLE1 result in a fetal motoneuron disease". Nature Genetics. 40 (2): 155–157.
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