title: Clinical neurogenetics: neuropathic lysosomal storage disorders.
abstract: The lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including hepatosplenomegaly and skeletal dysplasia. Onset of symptoms may range from birth to adulthood. Most are associated with neurologic features. Later-onset forms are often misdiagnosed as symptoms, which might include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Symptomatic care, which remains the mainstay for most subtypes, can lead to significant improvement in quality of life.
authors.affiliation: Departments of Neurology and Pediatrics, New York University School of Medicine, NYU at Rivergate, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA; Neurogenetics Laboratory, New York University School of Medicine, NYU at Rivergate, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA. Electronic address: gregory.pastores@nyumc.org.
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.forename: Gustavo H B
authors.initials: GH
authors.lastname: Maegawa
mesh_terms: D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
keywords: Leukodystrophy; Lysosomal storage disorders; Myopathy; Stroke