autosomal recessive spinocerebellar ataxia 18

Rare Disease

MONDO:0014530

Also Known As

GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndromeGRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndromeSCAR18autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiencyautosomal recessive spinocerebellar ataxia type 18spinocerebellar ataxia, autosomal recessive type 18autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyspinocerebellar ataxia, autosomal recessive 18

Definition

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

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Associated Genes

GRID2 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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autosomal recessive spinocerebellar ataxia 13

MONDO:0013905

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