Literature DB >> 35402643

Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.

Diana A Olszewska1, Sapna Rawal2, Conor Fearon1, Paula Alcaide-Leon2, Rick Stell3, Vijayashankar Paramanandan4, Tim Lynch5,6, Tania Jawad7, Padmaja Vittal8, Brandon Barton9,10, Hiroaki Miyajima11, Satoshi Kono12, Rukmini Mridula Kandadai13, Rupam Borgohain13, Anthony E Lang1.   

Abstract

We selected several "imaging pearls" presented during the Movement Disorder Society (MDS) Video Challenge for this review. While the event, as implicated by its name, was video-centered, we would like to emphasize the important role of imaging in making the correct diagnosis. We divided this anthology into two parts: genetic and acquired disorders. Genetic cases described herein were organized by the inheritance pattern and the focus was put on the imaging findings and differential diagnoses. Despite the overlapping phenotypes, certain described disorders have pathognomonic MRI brain findings that would provide either the "spot" diagnosis or result in further investigations leading to the diagnosis. Despite this, the diagnosis is often challenging with a broad differential diagnosis, and hallmark findings may be present for only a limited time.
© 2022 International Parkinson and Movement Disorder Society.

Entities:  

Keywords:  Alexander's disease; BPAN; CADASIL; HHT; MEGDEL; MRI; aceruloplasminemia

Year:  2022        PMID: 35402643      PMCID: PMC8974871          DOI: 10.1002/mdc3.13412

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


  74 in total

1.  Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia.

Authors:  A Parvinian; V N Iyer; B S Pannu; D R Apala; C P Wood; W Brinjikji
Journal:  AJNR Am J Neuroradiol       Date:  2017-08-03       Impact factor: 3.825

2.  Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.

Authors:  Shumpei Uchino; Hirotomo Saitsu; Satoko Kumada; Yasuhiro Nakata; Naomichi Matsumoto
Journal:  Mov Disord Clin Pract       Date:  2015-03-30

Review 3.  Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Authors:  Kyoko Takano; Naoko Shiba; Keiko Wakui; Tomomi Yamaguchi; Noriko Aida; Yuji Inaba; Yoshimitsu Fukushima; Tomoki Kosho
Journal:  Am J Med Genet A       Date:  2015-10-20       Impact factor: 2.802

4.  MR imaging findings of enteroviral encephaloymelitis: an outbreak in Taiwan.

Authors:  W C Shen; H H Chiu; K C Chow; C H Tsai
Journal:  AJNR Am J Neuroradiol       Date:  1999 Nov-Dec       Impact factor: 3.825

5.  Patterns of MRI lesions in CADASIL.

Authors:  H Chabriat; C Levy; H Taillia; M T Iba-Zizen; K Vahedi; A Joutel; E Tournier-Lasserve; M G Bousser
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

6.  Hyperintense basal ganglia lesions on T1-weighted images in hereditary hemorrhagic telangiectasia with hepatic involvement.

Authors:  Y Baba; K Ohkubo; K Hamada; H Hokotate; M Nakajo
Journal:  J Comput Assist Tomogr       Date:  1998 Nov-Dec       Impact factor: 1.826

7.  Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India.

Authors:  Madhu Nagappa; Sanjib Sinha; Jitender S Saini; Pradeep Kallolimath; Nivedita Singh; Arun Kumar; Parayil S Bindu; Arun B Taly
Journal:  J Clin Neurosci       Date:  2016-01-04       Impact factor: 1.961

8.  Quantitative measurements of brain iron deposition in cirrhotic patients using susceptibility mapping.

Authors:  Shuang Xia; Gang Zheng; Wen Shen; Saifeng Liu; Long Jiang Zhang; E Mark Haacke; Guang Ming Lu
Journal:  Acta Radiol       Date:  2014-03-19       Impact factor: 1.990

9.  Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Authors:  Roeltje R Maas; Katarzyna Iwanicka-Pronicka; Sema Kalkan Ucar; Bader Alhaddad; Moeenaldeen AlSayed; Mohammed A Al-Owain; Hamad I Al-Zaidan; Shanti Balasubramaniam; Ivo Barić; Dalal K Bubshait; Alberto Burlina; John Christodoulou; Wendy K Chung; Roberto Colombo; Niklas Darin; Peter Freisinger; Maria Teresa Garcia Silva; Stephanie Grunewald; Tobias B Haack; Peter M van Hasselt; Omar Hikmat; Friederike Hörster; Pirjo Isohanni; Khushnooda Ramzan; Reka Kovacs-Nagy; Zita Krumina; Elena Martin-Hernandez; Johannes A Mayr; Patricia McClean; Linda De Meirleir; Karin Naess; Lock H Ngu; Magdalena Pajdowska; Shamima Rahman; Gillian Riordan; Lisa Riley; Benjamin Roeben; Frank Rutsch; Rene Santer; Manuel Schiff; Martine Seders; Silvia Sequeira; Wolfgang Sperl; Christian Staufner; Matthis Synofzik; Robert W Taylor; Joanna Trubicka; Konstantinos Tsiakas; Ozlem Unal; Evangeline Wassmer; Yehani Wedatilake; Toni Wolff; Holger Prokisch; Eva Morava; Ewa Pronicka; Ron A Wevers; Arjan P de Brouwer; Saskia B Wortmann
Journal:  Ann Neurol       Date:  2017-12       Impact factor: 10.422

Review 10.  Bilateral lesions of the basal ganglia and thalami (central grey matter)-pictorial review.

Authors:  Sofie Van Cauter; Mariasavina Severino; Rosamaria Ammendola; Brecht Van Berkel; Hrvoje Vavro; Luc van den Hauwe; Zoran Rumboldt
Journal:  Neuroradiology       Date:  2020-08-05       Impact factor: 2.804

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