Literature DB >> 23720239

"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.

Maria Stamelou1, Niall P Quinn, Kailash P Bhatia.   

Abstract

Recently, a number of genetic parkinsonian conditions have been recognized that share some features with the clinical syndromes of progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA), the classic phenotypic templates of atypical parkinsonism. For example, patients with progranulin, dynactin, or ATP13A gene mutations may have vertical supranuclear gaze palsy. This has made differential diagnosis difficult for practitioners. In this review, our goal is to make clinicians aware of these genetic disorders and provide clinical clues and syndromic associations, as well as investigative features, that may help in diagnosing these disorders. The correct identification of these patients has important clinical, therapeutic, and research implications. © 2013 Movement Disorder Society.
Copyright © 2013 Movement Disorder Society.

Entities:  

Keywords:  PSP look-alikes; atypical parkinsonism; corticobasal degeneration; genetic; multiple system atrophy; progressive supranuclear palsy

Mesh:

Substances:

Year:  2013        PMID: 23720239     DOI: 10.1002/mds.25509

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  35 in total

1.  C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

Authors:  Antonino Cannas; Paolo Solla; Giuseppe Borghero; Gian Luca Floris; Adriano Chio; Marcello Mario Mascia; Nicola Modugno; Antonella Muroni; Gianni Orofino; Francesca Di Stefano; Andrea Calvo; Cristina Moglia; Gabriella Restagno; Mario Meloni; Rita Farris; Daniela Ciaccio; Roberta Puddu; Melisa Iris Vacca; Rosanna Melis; Maria Rita Murru; Stefania Tranquilli; Daniela Corongiu; Marcella Rolesu; Stefania Cuccu; Maria Giovanna Marrosu; Francesco Marrosu
Journal:  J Neurol       Date:  2015-08-15       Impact factor: 4.849

Review 2.  Diagnosis and differential diagnosis of MSA: boundary issues.

Authors:  Han-Joon Kim; Beom S Jeon; Kurt A Jellinger
Journal:  J Neurol       Date:  2015-02-07       Impact factor: 4.849

3.  Abnormal DaTSCAN and Atypical Parkinsonism in SCA12.

Authors:  Anna Latorre; Claudia Del Gamba; Elisa Menozzi; Bettina Balint; Florian Brugger; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2019-03-28

Review 4.  Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

Authors:  Alessio Di Fonzo; Edoardo Monfrini; Roberto Erro
Journal:  Curr Neurol Neurosci Rep       Date:  2018-05-23       Impact factor: 5.081

5.  Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome.

Authors:  Amit Batla; Roberto Erro; Christos Ganos; Maria Stamelou; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2015-06-02

6.  Very Late-Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look-Alike Disorder.

Authors:  Nikola Kresojević; Gorana Mandić-Stojmenović; Valerija Dobričić; Igor Petrović; Leposava Brajković; Elka Stefanova; Marina Svetel; Vladimir Kostić
Journal:  Mov Disord Clin Pract       Date:  2020-01-22

7.  Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Authors:  Luca Pollini; Serena Galosi; Francesca Nardecchia; Francesco Musacchia; Raffaele Castello; Vincenzo Nigro; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2019-11-21

8.  A critique of the second consensus criteria for multiple system atrophy.

Authors:  Iva Stankovic; Niall Quinn; Luca Vignatelli; Angelo Antonini; Daniela Berg; Elizabeth Coon; Pietro Cortelli; Alessandra Fanciulli; Joaquim J Ferreira; Roy Freeman; Glenda Halliday; Günter U Höglinger; Valeria Iodice; Horacio Kaufmann; Thomas Klockgether; Vladimir Kostic; Florian Krismer; Anthony Lang; Johannes Levin; Phillip Low; Christopher Mathias; Wassillios G Meissner; Lucy Norcliffe Kaufmann; Jose-Alberto Palma; Jalesh N Panicker; Maria Teresa Pellecchia; Ryuji Sakakibara; Jeremy Schmahmann; Sonja W Scholz; Wolfgang Singer; Maria Stamelou; Eduardo Tolosa; Shoji Tsuji; Klaus Seppi; Werner Poewe; Gregor K Wenning
Journal:  Mov Disord       Date:  2019-04-29       Impact factor: 10.338

Review 9.  Parkinsonism, movement disorders and genetics in frontotemporal dementia.

Authors:  José Fidel Baizabal-Carvallo; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2016-02-19       Impact factor: 42.937

Review 10.  Parkinsonian syndrome in familial frontotemporal dementia.

Authors:  Joanna Siuda; Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-06-13       Impact factor: 4.891

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.