| Literature DB >> 35402643 |
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.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