Cerebral Palsy, Ataxic, Autosomal Recessive (ACP)

Alias:
Ataxic Cerebral Palsy
Congenital Cerebral Palsy with Ataxia
Cerebral Infantile Diataxia
Ataxia with Cerebral Palsy
Ataxic Cerebral Paralysis
Hypotonic Cerebral Palsy
Cerebral Palsy, Atonic
Cerebral Palsy Ataxic
Acp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebral Palsy, Ataxic, Autosomal Recessive, also known as ataxic cerebral palsy, is related to spinocerebellar ataxia 13 and spinocerebellar ataxia 15, and has symptoms including ataxia and dysdiadochokinesis. An important gene associated with Cerebral Palsy, Ataxic, Autosomal Recessive is CPAT1 (Cerebral Palsy, Ataxic 1), and among its related pathways/superpathways are CLEC7A (Dectin-1) signaling and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drug D-Leucine has been mentioned in the context of this disorder. Affiliated tissues include cerebellum and brain, and related phenotypes are dysarthria and motor delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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12
92
4

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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