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Parkinsonism and inborn errors of metabolism

  • ICIEM Symposium 2013
  • Published:
Journal of Inherited Metabolic Disease

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.

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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

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Acknowledments

This study was funded by the grant FIS PS09/01132.

Currently, Dr. Sofia Duarte integrates the Portuguese Programme for Advanced Medical Education, sponsored by Calouste Gulbenkian Foundation and Portuguese Foundation for Science and Technology.

Conflict of interest

None.

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Authors and Affiliations

  1. Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain

    A. Garcia-Cazorla

  2. CIBER-ER Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain

    A. Garcia-Cazorla

  3. Neuropaediatrics Department, Hospital D. Estefânia, Centro Hospitalar Lisboa Central, Lisboa, Portugal

    S. T. Duarte

  4. Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal

    S. T. Duarte

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  1. A. Garcia-Cazorla
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Correspondence to A. Garcia-Cazorla.

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Communicated by: Alberto B. Burlina

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Garcia-Cazorla, A., Duarte, S.T. Parkinsonism and inborn errors of metabolism. J Inherit Metab Dis 37, 627–642 (2014). https://doi.org/10.1007/s10545-014-9723-6

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