Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compr...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2007-11, Vol.30 (6), p.855-864
Main Authors: Sedel, F, Fontaine, B, Saudubray, J. M, Lyon-Caen, O
Format: Article
Language:English
Subjects:
Age of Onset
Biological and medical sciences
Decision Trees
Female
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - genetics
Humans
Male
Medical genetics
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - complications
Metabolism, Inborn Errors - diagnosis
Methylation
Motor Neurons - metabolism
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Paraparesis, Spastic - complications
Paraparesis, Spastic - diagnosis
Paraparesis, Spastic - genetics
Spinal Cord - pathology
Syndrome
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Summary:Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compression, inflammatory, metabolic, infectious diseases) and the so-called ‘hereditary spastic paraparesis' Although poorly recognized by neurologists, spastic paraparesis is also one of the multiple presentations of inborn errors of metabolism (IEMs) in children and adults. Pyramidal signs are usually included in a diffuse neurological or systemic clinical picture; however, in some cases spastic paraparesis remains the only symptom for years. Since these metabolic causes are often treatable, it is essential to include them in the general diagnostic approach to spastic paraparesis. Here we review IEMs causing paraparesis in adults.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-007-0745-1