Spastic Paraplegia 79b, Autosomal Recessive (SPG79B)

Alias:
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
Spg79b
Neurodegeneration with Optic Atrophy, Childhood-Onset
Ndgoa
Neurodegeneration, with Optic Atrophy, Childhood-Onset
Autosomal Recessive Spastic Paraplegia Type 79
Autosomal Recessive Spastic Paraplegia 79b
Spastic Paraplegia 79 Autosomal Recessive
Hereditary Spastic Paraplegia 79b
Hereditary Spastic Paraplegia 79
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 79b, Autosomal Recessive, also known as early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, is related to spastic paraplegia 34, x-linked and hereditary spastic paraplegia 23, and has symptoms including cerebellar ataxia, muscular fasciculation and quadriparesis. An important gene associated with Spastic Paraplegia 79b, Autosomal Recessive is UCHL1 (Ubiquitin C-Terminal Hydrolase L1), and among its related pathways/superpathways is Alpha-synuclein signaling. Affiliated tissues include eye and brain, and related phenotypes are hyperreflexia and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
13
70
6

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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References Literature

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