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

Almundher Al-Maawali, Susan Blaser, Grace Yoon

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

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
Volume27
Issue number9
DOIs
Publication statusPublished - Sep 2012

Fingerprint

antineoplaston A10
Atrophy
Retrospective Studies
Neuroimaging
GM2 Gangliosidosis
Spinocerebellar Degenerations
Neuronal Ceroid-Lipofuscinoses
Mitochondrial Diseases
Ataxia Telangiectasia
Ataxia
Magnetic Resonance Imaging

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Diagnostic approach to childhood-onset cerebellar atrophy : A 10-year retrospective study of 300 patients. / Al-Maawali, Almundher; Blaser, Susan; Yoon, Grace.

In: Journal of Child Neurology, Vol. 27, No. 9, 09.2012, p. 1121-1132.

Research output: Contribution to journalArticle

@article{e51ff7ae942a4c89aa7832beac513f3f,
title = "Diagnostic approach to childhood-onset cerebellar atrophy: A 10-year retrospective study of 300 patients",
abstract = "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.",
keywords = "ataxia, cerebellar atrophy, ceroid lipofuscinosis, diagnosis, gangliosidosis, genetics, mitochondrial, telangiectasia",
author = "Almundher Al-Maawali and Susan Blaser and Grace Yoon",
year = "2012",
month = "9",
doi = "10.1177/0883073812448680",
language = "English",
volume = "27",
pages = "1121--1132",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "9",

}

TY - JOUR

T1 - Diagnostic approach to childhood-onset cerebellar atrophy

T2 - A 10-year retrospective study of 300 patients

AU - Al-Maawali, Almundher

AU - Blaser, Susan

AU - Yoon, Grace

PY - 2012/9

Y1 - 2012/9

N2 - 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.

AB - 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.

KW - ataxia

KW - cerebellar atrophy

KW - ceroid lipofuscinosis

KW - diagnosis

KW - gangliosidosis

KW - genetics

KW - mitochondrial

KW - telangiectasia

UR - http://www.scopus.com/inward/record.url?scp=84865631819&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84865631819&partnerID=8YFLogxK

U2 - 10.1177/0883073812448680

DO - 10.1177/0883073812448680

M3 - Article

C2 - 22764178

AN - SCOPUS:84865631819

VL - 27

SP - 1121

EP - 1132

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 9

ER -