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Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, et al. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2017;5(2):149-155doi: 10.1002/mdc3.12573.
Ebrahimi-Fakhari, D., Hildebrandt, C., Davis, P. E., Rodan, L. H., Anselm, I., & Bodamer, O. (2018). The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Movement disorders clinical practice, 5(2), 149-155. https://doi.org/10.1002/mdc3.12573
Ebrahimi-Fakhari, Darius, et al. "The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases." Movement disorders clinical practice vol. 5,2 (2018): 149-155. doi: https://doi.org/10.1002/mdc3.12573
Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-155. doi: 10.1002/mdc3.12573. Epub 2017 Dec 10. PMID: 29930972; PMCID: PMC6005694.
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Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-155. doi: 10.1002/mdc3.12573. Epub 2017 Dec 10.

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Movement disorders clinical practice

Darius Ebrahimi-Fakhari, Clara Hildebrandt, Peter E Davis, Lance H Rodan, Irina Anselm, Olaf Bodamer

Affiliations

  1. Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  2. Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  3. Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  4. Broad Institute of MIT and Harvard University, Cambridge, MA, USA.

PMID: 29930972 PMCID: PMC6005694 DOI: 10.1002/mdc3.12573

Abstract

BACKGROUND: Movement disorders are a significant clinical problem in lysosomal storage diseases (LSD) and account for substantial morbidity. The spectrum of movement disorders in childhood-onset LSD, however, remains poorly defined.

OBJECTIVES: To define the spectrum of movement disorders in a well-characterized cohort of children with LSD.

METHODS: A retrospective chart review at a single tertiary care center (Boston Children's Hospital, Boston, MA, USA). Patients up to the age of 18 years with a clinical, genetic and/or biochemical diagnosis of an LSD and at least one predefined movement disorder (parkinsonism, dystonia, ataxia, tremor, chorea, myoclonus, ballism, restless leg syndrome) were included.

RESULTS: 96 patients were identified and 76 patients had a sufficiently document biochemical and/or genetic diagnosis. Of these, 18 patients met inclusion criteria (mean age: 10.3±5.8 (SD) years, range: 3-18 years; 72% male). The most common LSD associated with a movement disorder was Niemann-Pick disease type C (NPC), followed by several types of neuronal ceroid lipofuscinosis (NCL) and different mucopolysaccharidoses. The most common movement disorder was ataxia followed by rest tremor, dystonia and myoclonus. The other predefined movement disorders were rare. The majority of patients presented with more than one movement disorder. The movement disorder was slowly progressive in all patients. Brain MRI changes included diffuse cerebral volume loss, white matter abnormalities with thinning of the corpus callosum, and cerebellar atrophy.

CONCLUSIONS: Movement disorders develop in a significant number of LSD patients. Ataxia, often in patients with NPC and NCL, is the most common phenotype but significant heterogeneity exists within and between different LSD.

Keywords: Niemann-Pick disease type C; ataxia; lysosomal storage diseases; neurogenetics; neuronal ceroid lipofuscinosis

Conflict of interest statement

Funding sources and conflicts of interest: This work was supported by the Fred Lovejoy Research and Education Fund (to D.E.-F.).

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