Parkinsonism in diseases predominantly presenting with dystonia

Alessio Di Fonzo, Giulia Franco, Paolo Barone, Roberto Erro

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporadic Parkinson Disease, the term dystonia-parkinsonism usually refers to rare conditions, often genetic, in which the severity of dystonia usually equates that of parkinsonism. At variance with parkinsonian syndromes with additional dystonia, the conditions reviewed in this chapter have usually their onset in childhood and their diagnostic work-up is different. In fact, the phenotype is not usually specific of the underlying defect and additional investigations are therefore required. Here, we review the diseases predominantly presenting with dystonia where parkinsonism can develop, according to their main pathophysiological mechanism including disorders of dopamine biosynthesis, neurotransmitter transporter disorders, disorder of metal metabolism (i.e., iron, copper and manganese) and other inherited dystonia-parkinsonism conditions.

Original languageEnglish
Title of host publicationInternational Review of Neurobiology
EditorsMaria Stamelou, Günter U. Höglinger
PublisherAcademic Press Inc.
Pages307-326
Number of pages20
ISBN (Print)9780128177303
DOIs
Publication statusPublished - 2019

Publication series

NameInternational Review of Neurobiology
Volume149
ISSN (Print)0074-7742
ISSN (Electronic)2162-5514

Fingerprint

Dystonia
Parkinsonian Disorders
Neurotransmitter Transport Proteins
Manganese
Parkinson Disease
Copper
Dopamine
Iron
Metals
Phenotype

Keywords

  • ATP1A3
  • DRD
  • Dystonia-parkinsonism
  • DYT
  • Iron accumulation
  • NBIA
  • Neurotransmitter transporters
  • PRKRA
  • TAF1
  • Wilson disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

Di Fonzo, A., Franco, G., Barone, P., & Erro, R. (2019). Parkinsonism in diseases predominantly presenting with dystonia. In M. Stamelou, & G. U. Höglinger (Eds.), International Review of Neurobiology (pp. 307-326). (International Review of Neurobiology; Vol. 149). Academic Press Inc.. https://doi.org/10.1016/bs.irn.2019.10.007

Parkinsonism in diseases predominantly presenting with dystonia. / Di Fonzo, Alessio; Franco, Giulia; Barone, Paolo; Erro, Roberto.

International Review of Neurobiology. ed. / Maria Stamelou; Günter U. Höglinger. Academic Press Inc., 2019. p. 307-326 (International Review of Neurobiology; Vol. 149).

Research output: Chapter in Book/Report/Conference proceedingChapter

Di Fonzo, A, Franco, G, Barone, P & Erro, R 2019, Parkinsonism in diseases predominantly presenting with dystonia. in M Stamelou & GU Höglinger (eds), International Review of Neurobiology. International Review of Neurobiology, vol. 149, Academic Press Inc., pp. 307-326. https://doi.org/10.1016/bs.irn.2019.10.007
Di Fonzo A, Franco G, Barone P, Erro R. Parkinsonism in diseases predominantly presenting with dystonia. In Stamelou M, Höglinger GU, editors, International Review of Neurobiology. Academic Press Inc. 2019. p. 307-326. (International Review of Neurobiology). https://doi.org/10.1016/bs.irn.2019.10.007
Di Fonzo, Alessio ; Franco, Giulia ; Barone, Paolo ; Erro, Roberto. / Parkinsonism in diseases predominantly presenting with dystonia. International Review of Neurobiology. editor / Maria Stamelou ; Günter U. Höglinger. Academic Press Inc., 2019. pp. 307-326 (International Review of Neurobiology).
@inbook{155e3dec6f224af38d6094cb6ff2d6ca,
title = "Parkinsonism in diseases predominantly presenting with dystonia",
abstract = "If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporadic Parkinson Disease, the term dystonia-parkinsonism usually refers to rare conditions, often genetic, in which the severity of dystonia usually equates that of parkinsonism. At variance with parkinsonian syndromes with additional dystonia, the conditions reviewed in this chapter have usually their onset in childhood and their diagnostic work-up is different. In fact, the phenotype is not usually specific of the underlying defect and additional investigations are therefore required. Here, we review the diseases predominantly presenting with dystonia where parkinsonism can develop, according to their main pathophysiological mechanism including disorders of dopamine biosynthesis, neurotransmitter transporter disorders, disorder of metal metabolism (i.e., iron, copper and manganese) and other inherited dystonia-parkinsonism conditions.",
keywords = "ATP1A3, DRD, Dystonia-parkinsonism, DYT, Iron accumulation, NBIA, Neurotransmitter transporters, PRKRA, TAF1, Wilson disease",
author = "{Di Fonzo}, Alessio and Giulia Franco and Paolo Barone and Roberto Erro",
year = "2019",
doi = "10.1016/bs.irn.2019.10.007",
language = "English",
isbn = "9780128177303",
series = "International Review of Neurobiology",
publisher = "Academic Press Inc.",
pages = "307--326",
editor = "Maria Stamelou and H{\"o}glinger, {G{\"u}nter U.}",
booktitle = "International Review of Neurobiology",
address = "United States",

}

TY - CHAP

T1 - Parkinsonism in diseases predominantly presenting with dystonia

AU - Di Fonzo, Alessio

AU - Franco, Giulia

AU - Barone, Paolo

AU - Erro, Roberto

PY - 2019

Y1 - 2019

N2 - If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporadic Parkinson Disease, the term dystonia-parkinsonism usually refers to rare conditions, often genetic, in which the severity of dystonia usually equates that of parkinsonism. At variance with parkinsonian syndromes with additional dystonia, the conditions reviewed in this chapter have usually their onset in childhood and their diagnostic work-up is different. In fact, the phenotype is not usually specific of the underlying defect and additional investigations are therefore required. Here, we review the diseases predominantly presenting with dystonia where parkinsonism can develop, according to their main pathophysiological mechanism including disorders of dopamine biosynthesis, neurotransmitter transporter disorders, disorder of metal metabolism (i.e., iron, copper and manganese) and other inherited dystonia-parkinsonism conditions.

AB - If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporadic Parkinson Disease, the term dystonia-parkinsonism usually refers to rare conditions, often genetic, in which the severity of dystonia usually equates that of parkinsonism. At variance with parkinsonian syndromes with additional dystonia, the conditions reviewed in this chapter have usually their onset in childhood and their diagnostic work-up is different. In fact, the phenotype is not usually specific of the underlying defect and additional investigations are therefore required. Here, we review the diseases predominantly presenting with dystonia where parkinsonism can develop, according to their main pathophysiological mechanism including disorders of dopamine biosynthesis, neurotransmitter transporter disorders, disorder of metal metabolism (i.e., iron, copper and manganese) and other inherited dystonia-parkinsonism conditions.

KW - ATP1A3

KW - DRD

KW - Dystonia-parkinsonism

KW - DYT

KW - Iron accumulation

KW - NBIA

KW - Neurotransmitter transporters

KW - PRKRA

KW - TAF1

KW - Wilson disease

UR - http://www.scopus.com/inward/record.url?scp=85075430923&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85075430923&partnerID=8YFLogxK

U2 - 10.1016/bs.irn.2019.10.007

DO - 10.1016/bs.irn.2019.10.007

M3 - Chapter

AN - SCOPUS:85075430923

SN - 9780128177303

T3 - International Review of Neurobiology

SP - 307

EP - 326

BT - International Review of Neurobiology

A2 - Stamelou, Maria

A2 - Höglinger, Günter U.

PB - Academic Press Inc.

ER -