Journal of Inherited Metabolic Disease

, Volume 37, Issue 4, pp 627–642

Parkinsonism and inborn errors of metabolism

ICIEM Symposium 2013

DOI: 10.1007/s10545-014-9723-6

Cite this article as:
Garcia-Cazorla, A. & Duarte, S.T. J Inherit Metab Dis (2014) 37: 627. doi:10.1007/s10545-014-9723-6

Abstract

Parkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic-rigid syndrome” (HRS) is more accurate in children. In general, the terms “dystonia-parkinsonism”, “parkinsonism-plus”, or “parkinsonism-like” are preferred to designate these forms of paediatric HRS. Inborn errors of metabolism (IEM) constitute an important group amongst the genetic causes of Parkinsonism at any age. The main IEM causing Parkinsonism are metal-storage diseases, neurotransmitter defects, lysosomal storage disorders and energy metabolism defects. IEM should not be neglected as many of them represent treatable causes of Parkinsonism. Here we review IEMs causing this neurological syndrome and propose diagnostic approaches depending on the age of onset and the associated clinical and neuroimaging features.

Abbreviations

AADC

Aromatic L-amino acid decarboxylase

AD

Autosomal dominant

AR

Autosomal recessive

BH4

Tetrahydrobiopterin

BP

Biopterin

CNL

Ceroid lipofuscinosis

CSF

Cerebrospinal fluid

CTX

Cerebrotendinous xanthomatosis

GABA

Gamma-aminobutyric acid

GM1

GM1 gangliosidosis

GPe

globus pallidus (pars externa)

GPi

The globus pallidus (pars interna)

GTPCH

Guanosine triphosphate cyclohydrolase-I

5-HIAA

5-hydroxyindolacetic acid

HRS

Hypokinetic rigid syndrome

HVA

Homovanillic acid

IBZM

Iodobenzamide

IEM

Inborn errors of metabolism

MAO

Monoamine oxidase

MRI

Magnetic resonance imaging

NMDAR

N-methyl-D-aspartate receptor

NBIA

Neurodegeneration with brain iron accumulation

NP

Neopterin

NT

Neurotransmitter

PC

Pyruvate carboxylase

PD

Parkinson's disease

PET

Positron emission tomography

PKAN

Pantothenate kinase- associated neurodegeneration

PTPS

6-pyruvoyl-tetrahydropoterin synthase

SPN

Spiny projection neurons

SN

Substantia nigra

SNc

Substantia nigra compacta

SNr

Substantia nigra reticulata

SPECT

Single-photon emission computed tomography

STN

Subthalamic nucleus

TH

Tyrosine hydroxylase

VLA

Vanillactic acid

YOPD

Young adult onset Parkinsonism disease

Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of NeurologyHospital Sant Joan de Déu (HSJD)BarcelonaSpain
  2. 2.CIBER-ER Biomedical Network Research Centre on Rare DiseasesInstituto de Salud Carlos IIIBarcelonaSpain
  3. 3.Neuropaediatrics DepartmentHospital D. Estefânia, Centro Hospitalar Lisboa CentralLisboaPortugal
  4. 4.Instituto de Medicina MolecularFaculdade de Medicina da Universidade de LisboaLisboaPortugal