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disease: Spinocerebellar ataxia, autosomal recessive 8

id4444
nameSpinocerebellar ataxia, autosomal recessive 8
descriptionSYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia at the mild end to arthrogryposis multiplex congenita (AMC) at the severe end. SYNE1-deficient cerebellar ataxia, the most commonly recognized manifestation of SYNE1 deficiency to date, is a slowly progressive disorder typically beginning in adulthood (age range 6-45 years). While some individuals have a pure cerebellar syndrome (i.e., cerebellar ataxia, dysarthria, dysmetria, abnormalities in ocular saccades and smooth pursuit), many also have upper motor neuron dysfunction (spasticity, hyperreflexia, Babinski sign) and/or lower motor neuron dysfunction (amyotrophy, reduced reflexes, fasciculations). Most patients develop features of the cerebellar cognitive and affective syndrome (i.e., significant deficits in attention, executive functioning, verbal working memory, and visuospatial/visuoconstructional skills). The two less common phenotypes are SYNE1-deficient childhood-onset multisystem disease (ataxia, upper and lower motor neuron dysfunction, muscle weakness and wasting, intellectual disability) and SYNE1-deficient arthrogryposis multiplex congenita (decreased fetal movements and severe neonatal hypotonia associated with multiple congenital joint contractures including clubfoot).
variant-disease NM_182961.4(SYNE1):c.15918-12A>G AND Spinocerebellar ataxia, autosomal recessive 8
SYNE1, 5-BP DEL, NT334338 AND Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.5182G>T (p.Glu1728Ter) AND Spinocerebellar ataxia, autosomal recessive 8
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) AND Spinocerebellar ataxia, autosomal recessive 8
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) AND Spinocerebellar ataxia, autosomal recessive 8
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