Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

被引：49

作者：

Sedel, F. ^{[1
,2
,3
]}

Saudubray, J. -M. ^{[4
,5
]}

Roze, E. ^{[3
,6
]}

Agid, Y. ^{[3
,7
]}

Vidailhet, M. ^{[3
,7
]}

机构：

[1] Neurometabol Unit, F-75651 Paris 13, France

[2] Salpetriere Hosp, Reference Ctr Lysosomal Dis, F-75651 Paris 13, France

[3] Salpetriere Hosp, Assistance Publ Hop Paris, Paris, France

[4] Assistacne Publ Hop Paris, Hop Necker Enfants Malad, Natl Reference Ctr Metab Dis, Paris, France

[5] Univ Paris 05, Paris, France

[6] Univ Paris 06, INSERM, U711, Paris, France

[7] Univ Paris 06, Salpetriere Hosp, INSERM, U679, Paris, France

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2008年 / 31卷 / 03期

关键词：

D O I：

10.1007/s10545-008-0854-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.

引用

页码：308 / 318

页数：11

共 50 条

[1] Eye movement disorders in adolescents and adults with an inborn errors of metabolism
Koens, L.
de Koning, T.
Tijssen, M.
[J]. MOVEMENT DISORDERS, 2021, 36 : S510 - S510
[2] Movement Disorders in Treatable Inborn Errors of Metabolism
Ebrahimi-Fakhari, Darius
Van Karnebeek, Clara
Muenchau, Alexander
[J]. MOVEMENT DISORDERS, 2019, 34 (05) : 598 - 613
[3] Movement disorders in late-onset inborn errors of metabolism - a new diagnostic algorithm
Koens, L.
Tijssen, M.
de Koning, T.
[J]. MOVEMENT DISORDERS, 2019, 34 : S212 - S213
[4] Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach
Sedel, F.
Fontaine, B.
Saudubray, J. M.
Lyon-Caen, O.
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (06) : 855 - 864
[5] Epilepsy and inborn errors of metabolism in adults: A diagnostic approachC
Sedel, F.
Gourfinkel-An, I.
Lyon-Caen, O.
Baulac, M.
Saudubray, J. -M.
Navarro, V.
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (06) : 846 - 854
[6] How to detect late-onset inborn errors of metabolism in patients with movement disorders-A modern diagnostic approach*
Koens, Lisette H.
de Vries, Jeroen J.
Vansenne, Fleur
de Koning, Tom J.
Tijssen, Marina A. J.
[J]. PARKINSONISM & RELATED DISORDERS, 2021, 85 : 124 - 132
[7] Inborn errors of metabolism: diagnostic approach in Primary Care
Martin Sanchez, M. J.
Legarda Tamara, M.
Dalmau Serra, J.
[J]. BOLETIN DE PEDIATRIA, 2007, 47 (200): : 111 - 115
[8] Diagnostic approach to inborn errors of metabolism in an emergency unit
Calvo, M
Artuch, R
Macià, E
Luaces, C
Vilaseca, MA
Pou, J
Pineda, M
[J]. PEDIATRIC EMERGENCY CARE, 2000, 16 (06) : 405 - 408
[9] Inborn Errors of Metabolism with Movement Disorders Defects in Metal Transport and Neurotransmitter Metabolism
Kantamneni, Trishna
Mondok, Lileth
Parikh, Sumit
[J]. PEDIATRIC CLINICS OF NORTH AMERICA, 2018, 65 (02) : 301 - +
[10] RARE INBORN ERRORS OF METABOLISM IN ADULTS: THE LYSOSOMAL STORAGE DISORDERS
Eyskens, F.
[J]. ACTA CLINICA BELGICA, 2009, 64 (06): : 534 - 539

← 1 2 3 4 5 →