Results 121 to 130 of about 80,232 (259)

Ataxia-telangiectasia-like disorder-1 with ocular telangiectasia — A rare case report from India

Annals of Movement Disorders
Ataxia-telangiectasia-like disorder-1 (ATLD-1) is an autosomal recessive disorder that is classified as a chromosomal instability syndrome. It is caused by the homozygous or compound heterozygous variants of the MRE11 gene, which repairs the double ...
Anjali Chouksey
doaj   +1 more source

Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models

Biomedicines
The inaccessibility of human cerebellar tissue and the complexity of its development have historically hindered the study of cerebellar ataxias, a genetically diverse group of neurodegenerative disorders.
Michela Giacich, Valentina Naef, Filippo Maria Santorelli, Devid Damiani   +3 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]

, 2019
Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi, Chan, Anne Yin-Yan, Chan, Ho Yin Edwin, Chan, Larry W L, Chan, Ting-Fung, Cheng, Timothy H T, Li, Jing-Woei, Lin, Xiao, Mok, Vincent C T, Yim, Aldrin Kay-Yuen, Yu, Allen Chi-Shing, Yuen, Liz Y P   +11 more
core   +1 more source

Adult‐Onset Acute Cerebellar Ataxia with Preceding Essential Tremor‐like Syndrome Associated with a Novel Variant in ATP1A3

Movement Disorders Clinical Practice, EarlyView.
Lukas Gattermeyer‐Kell, Sebastian Franthal, Maria Tscherner, Mariella Kögl, Petra Katschnig‐Winter, Christian Windpassinger, Petra Schwingenschuh   +6 more
wiley   +1 more source

Voice and Speech in Atypical Parkinsonian Disorders

Movement Disorders Clinical Practice, EarlyView.
Background Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics.
Federico Rodriguez‐Porcel, Farwa Ali, Michiko Bruno, Heather Davis Cuevas, Rohit Dhall, Kylie Dunne‐Platero, Lawrence I. Golbe, Ihtsham Haq, Nicole Herndon, Lawrence S. Honig, Kyurim Kang, Sarah Kremen, Guillaume Lamotte, Nikolaus R. McFarland, Michela Mir, Leila Montaser‐Kouhsari, Alexander Pantelyat, Joel Page, Hylan Pickett, Laura Purcell Verdun, Kelly Richardson, Jessica Shurer, Michelle Troche, Rene L. Utianski, Katya Villarreal‐Cavazos, Tuhin Virmani, Anne‐Marie Wills, as the Diagnosis and Treatment Working Group, CurePSP Center of Care (CoC) Network, Farwa Ali, Michiko Bruno, Timothy Chang, Rohit Dhall, Kimiko Domoto‐Reilly, Lawrence I. Golbe, Ihtsham Haq, Lawrence S. Honig, Sarah Kremen, Guillaume Lamotte, Zoltan Mari, Nikolaus R. McFarland, Leila Montaser‐Kouhsari, Alexander Pantelyat, Federico Rodriguez‐Porcel, Junaid Siddiqui, Jessica Shurer, Christopher Spears, Tuhin Virmani, Anne‐Marie Wills   +48 more
wiley   +1 more source

Should Patients Suffering from Degenerative Cerebellar Ataxia Switch from Balance Training to Aerobic Exercise?

Movement Disorders Clinical Practice, EarlyView.
Winfried Ilg, Sarah Milne
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source

The Oldest Known Case of SCA6: Diagnostic Insights from a 101‐Year‐Old Woman with Progressive Ataxia

Movement Disorders Clinical Practice, EarlyView.
Nicolas Labaure, Katherine Longardner
wiley   +1 more source