Leukoencephalopathies associated with inborn errors of metabolism in adults
- 780 Downloads
The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs.
Unable to display preview. Download preview PDF.
- Bataillard M, Richard P, Rumbach L, Vanier MT, Truttmann M (1997) Isolated spastic paraparesis disclosing Krabbe disease in adult age. Rev Neurol (Paris) 153: 347–350.Google Scholar
- Bjorkhem I, Muri Boberg K, Leitersdorf E (2001) Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2961–2988.Google Scholar
- Deconinck N, Messaaoui A, Ziereisen F, et al (2007) Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. Eur J Paediatr Neurol [E-pub ahead of print].Google Scholar
- Fontaine B, Thenin JP, Viader F (2003) Gait disorders with insidious progression in a 60-year old woman. Rev Neurol (Paris) 159: 695–699.Google Scholar
- Menage P, Carreau V, Tourbah A, et al (1993) [Symptomatic heterozygotic adrenoleukodystrophy in adults. 10 cases] [In French]. Rev Neurol (Paris) 149: 445–454.Google Scholar
- Sedel F, Tourbah A, Baumann N, et al (2005) Adult onset leukodystrophies. Rev Neurol (Paris) 161: 916–931.Google Scholar
- Turpin JC, Paturneau-Jouas M, Sereni C, Pluot M, Baumann N (1985) Adult disclosure of a case of familial adrenoleukodystrophy. Rev Neurol (Paris) 141: 289–295.Google Scholar
- Von Figura K, Gieselmann V, Jaeken J (2001) Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3695–3724.Google Scholar
- Wenger DA, Suzuki K, Suzuki Y, Suzuki K (2001) Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3669–3694.Google Scholar