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Updated: Feb 9, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
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Recessive ataxias.

Matthis Synofzik1, Andrea H Németh2

  • 1Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Handbook of Clinical Neurology
|June 13, 2018
PubMed
Summary
This summary is machine-generated.

Recessive ataxias (SCARs) are rare neurodegenerative disorders. This overview guides diagnosis and management of common SCARs, including Friedreich ataxia and ARSACS, using genetic sequencing and clinical features.

Keywords:
Friedreich ataxiaSCARSYNE1ataxia with oculomotor apraxiaautosomal-recessive spastic ataxia Charlevoix–Saguenayearly-onset ataxiageneticsnext-generation sequencingwhole-exome sequencing

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Recessive ataxias (SCARs) are rare, heterogeneous neurodegenerative disorders typically presenting in childhood or early adulthood.
  • SCARs are classified into sensory or cerebellar types, affecting peripheral input or the cerebellum itself.
  • Over 100 novel SCAR genes have been identified recently, though many remain ultrarare.

Purpose of the Study:

  • To provide an updated overview of frequent SCARs and their phenotypic features for clinical guidance.
  • To summarize diagnostic features, natural history, and therapeutic approaches for SCARs.
  • To present a diagnostic algorithm for evaluating patients with unexplained SCARs.

Main Methods:

  • Review of current literature on SCARs, focusing on frequent types like Friedreich ataxia, spastic paraplegia type 7, ARSACS, and SYNE-related ataxia.
  • Analysis of phenotypic features, diagnostic criteria, and natural history of common SCARs.
  • Integration of next-generation sequencing (NGS) data and cost-effectiveness for diagnostic algorithm development.

Main Results:

  • Highlights frequent SCARs such as Friedreich ataxia, spastic paraplegia type 7, ARSACS, and AVED, noting regional prevalence.
  • Emphasizes the need for high suspicion in early-onset balance disorders, especially in children, due to potentially atypical presentations.
  • Summarizes diagnostic features, natural history, and current/emerging therapies, including a table of clinically relevant SCARs.

Conclusions:

  • An up-to-date overview and diagnostic algorithm are crucial for managing SCARs.
  • Early identification and suspicion are key, particularly in pediatric cases.
  • Next-generation sequencing approaches offer cost-effective diagnostic pathways for SCARs.