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Nonprogressive congenital ataxias.

Enrico Bertini1, Ginevra Zanni1, Eugen Boltshauser2

  • 1Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, Rome, Italy.

Handbook of Clinical Neurology
|June 13, 2018
PubMed
Summary

Nonprogressive congenital ataxia (NPCA) involves early-onset ataxia without worsening, often with developmental delays and cognitive issues. Genetic research is rapidly expanding our understanding of this heterogeneous group of disorders.

Keywords:
cerebellar ataxiacerebellar atrophycerebellar hypoplasiacerebellum and cognitionnonprogressive cerebellar ataxia

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Nonprogressive congenital ataxia (NPCA) is a group of disorders presenting with early-onset ataxia.
  • Symptoms include hypotonia, delayed motor and language milestones, and often cognitive and language impairments.
  • Associated features can include seizures, ocular signs, behavioral changes, and microcephaly.

Purpose of the Study:

  • To review the clinical and genetic heterogeneity of NPCA.
  • To focus on the identified dominant and recessive genes associated with NPCA.
  • To highlight the evolving understanding of NPCA genetics.

Main Methods:

  • Literature review focusing on clinical presentation, neuroimaging, and genetic findings in NPCA.
  • Exclusion of acquired conditions, malformations, and defined syndromic disorders.
  • Analysis of identified dominant and recessive genes linked to NPCA.

Main Results:

  • NPCA is clinically and genetically heterogeneous, characterized by static or improving ataxia.
  • Neuroimaging findings are variable, including cerebellar hypoplasia or enlarged fissures.
  • No clear imaging-clinical-genetic correlation is established.
  • Dominant, recessive, and X-linked inheritance patterns are documented.

Conclusions:

  • NPCA encompasses a diverse range of genetic conditions.
  • Continued genetic research is expected to significantly expand the knowledge of NPCA.
  • Understanding the genetic basis is crucial for diagnosis and potential future therapies.