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Autosomal recessive spinocerebellar ataxia 18

MONDO:0014530

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.

Also known as: GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome, GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome, SCAR18, autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2, autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2, autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, autosomal recessive spinocerebellar ataxia type 18, spinocerebellar ataxia, autosomal recessive type 18

52 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Neurodegenerative disease (155) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89) Inborn errors of metabolism (42) Cerebellar ataxia (32)
Trials to join now! 28 Not yet recruiting 6 Not yet finished but already full! 7 Completed 11
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