UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83. Green open access

[img]
Preview
PDF
The_pallidopyramidal_syndromes___nosology,.9.pdf

Download (608kB)

Abstract

Purpose of Review: The aims of this review is to suggest a new nomenclature and classification system for the diseases currently categorized as neurodegeneration with brain iron accumulation (NBIA) or dystonia-parkinsonism, and to discuss the mechanisms implicated in the pathogenesis of these diseases. Recent Findings: NBIA is a disease category encompassing syndromes with iron accumulation and prominent dystonia-parkinsonism. However, as there are many diseases with similar clinical presentations but without iron accumulation and/or known genetic cause, the current classification system and nomenclature remain confusing. The pathogenetic mechanisms of these diseases and the causes of gross iron accumulation and significant burden of neuroaxonal spheroids are also elusive. Recent genetic and functional studies have identified surprising links between NBIA, Parkinson,s disease and lysosomal storage disorders (LSD) with the common theme being a combined lysosomal-mitochondrial dysfunction. We hypothesize that mitochondria and lysosomes form a functional continuum with a predominance of mitochondrial and lysosomal pathways in NBIA and LSD, respectively, and with Parkinson,s disease representing an intermediate form of disease. Summary: During the past 18 months, important advances have been made towards understanding the genetic and pathological underpinnings of the pallidopyramidal syndromes with important implications for clinical practice and future treatment developments. © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Type: Article
Title: The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/WCO.0b013e3283632e83
Publisher version: http://dx.doi.org/10.1097/WCO.0b013e3283632e83
Additional information: © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins. This is an open access article distributed under the Creative Commons Attribution License 4.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by-nc-nd/4.0.
Keywords: Hallervorden–Spatz disease; lysosomal storage disorders; neurodegeneration with brain iron accumulation; Parkinson's disease
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1404806
Downloads since deposit
160Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item