FB2026_03 , released September 17, 2026
Human Disease Model Report: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
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General Information
Name
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
FlyBase ID
FBhh0001320
Disease Ontology Term
Parent Disease
OMIM
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP
Overview

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (NADGP)is one of several neurodegenerative diseases in which the human gene SQSTM1 is implicated. NADGP exhibits autosomal recessive inheritance. For information on Drosophila models of this and related diseases, see the disease model report 'neurodegenerative disease, SQSTM1-related' (FBhh0001318).

[updated Feb. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
OMIM report

[NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP](https://omim.org/entry/617145)

Human gene(s) implicated

[SEQUESTOSOME 1; SQSTM1](https://omim.org/entry/601530)

Symptoms and phenotype

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016; pubmed:27545679). [from MIM:617145; 2021.02.22]

(OMIM, 2013-)
Genetics

NADGP is caused by homozygous mutation in the SQSTM1 gene. [from MIM:617145; 2021.02.22]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
    Disease synonyms
    NADGP
    Ortholog Information
    Human gene(s) in FlyBase
      Other mammalian ortholog(s) used
        D. melanogaster Gene Information (0)
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (0 groups)
          Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
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          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
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          Selected Drosophila transgenes
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          RNAi constructs available
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          Selected Drosophila classical alleles
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          References (2)