Scar13 - Qoraquzo

Last updated: Friday, September 13, 2024

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Severe Neurodevelopmental Autosomal in Recessive Disorder

characterized a by psychomotor to mild profound is 13 spinocerebellar disease neurological recessive Autosomal delay ataxia

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614831 ATAXIA AUTOSOMAL SPINOCEREBELLAR Entry

disorder autosomal Autosomal characterized ataxia13 spinocerebellar psychomotor delayed is recessive by development recessive neurologic an

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affect GRM1 SCAR13associated mutations and SCA44

mutations

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SCAR13associated mutations SCA44 GRM1 affect and

receptor glutamate target CNS including spinocerebellar Metabotropic 1 therapeutic is for promising a neurodegenerative disorders mGlu1

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mutations affect SCAR13associated GRM1 SCA44 and

Title allosteric occurring SCA44 Keywords spinocerebellar mutations Mutant mGlu1 ataxia modulation mGlu1 glutamate Running function naturally

SCA44 SCAR13associated affect and GRM1 mutations

arise mGlu1 in rare subtype and gene the encoding recessive autosomal SCA44 from OMIM614831 The mutations SCA OMIM617691 the GRM1