Diagnostic approach to childhood-onset cerebellar atrophy: A 10-year retrospective study of 300 patients

Almundher Al-Maawali, Susan Blaser, Grace Yoon*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

41 Citations (Scopus)


Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrophy helps guide further investigations. We performed a detailed review of 300 patients with confirmed cerebellar atrophy on magnetic resonance imaging over a 10-year period. A diagnosis was established in 47% of patients: Mitochondrial disorders were most common, followed by neuronal ceroid lipofuscinosis, ataxia telangiectasia, and late-onset GM2 gangliosidosis. We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses.

Original languageEnglish
Pages (from-to)1121-1132
Number of pages12
JournalJournal of Child Neurology
Issue number9
Publication statusPublished - Sept 2012


  • ataxia
  • cerebellar atrophy
  • ceroid lipofuscinosis
  • diagnosis
  • gangliosidosis
  • genetics
  • mitochondrial
  • telangiectasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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