Results 191 to 200 of about 600,045 (285)

Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset

Movement Disorders, EarlyView.
Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi, Nicola Z. Hobbs, Mena Farag, Michael J. Murphy, Kate Fayer, Olivia Thackeray, Harry Knights, James B. Rowe, Trevor W. Robbins, Barbara J. Sahakian, Geraint Rees, Rachael I. Scahill, Sarah J. Tabrizi, Christelle Langley   +13 more
wiley   +1 more source

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients. [PDF]

Cerebellum, 2023
Picker-Minh S, Luperi I, Ravindran E, Kraemer N, Zaqout S, Stoltenburg-Didinger G, Ninnemann O, Hernandez-Miranda LR, Mani S, Kaindl AM.   +9 more
europepmc   +1 more source

Apathy in Lewy Body Disorders: A Position Paper

Movement Disorders, EarlyView.
Abstract Apathy is one of the most prevalent and disabling non‐motor symptoms in Parkinson's disease (PD) and dementia with Lewy bodies (DLB), collectively referred to as Lewy body disorders (LBDs). It is associated with reduced quality of life, accelerated cognitive decline, increased caregiver burden, and poorer functional outcomes, yet remains ...
Jaime Kulisevsky, Lidia Bojtos, Milica G. Kramberger, Elisa Mantovani, Iulia Murasan, Jose‐Alberto Palma, Karolina Poplawska‐Domaszewicz, Anna Sauerbier, Kallol Ray Chaudhuri, Per Odin, Daniel Weintraub, Anette Schrag, Cristian Falup‐Pecorariu   +12 more
wiley   +1 more source

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>. [PDF]

Front Cell Dev Biol, 2022
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB.   +31 more
europepmc   +1 more source

Spatiotemporal Tau Accumulation and its Clinical Impact on Progressive Supranuclear Palsy: Longitudinal Florzolotau (18F) Positron Emission Tomography

Movement Disorders, EarlyView.
Abstract Background Florzolotau (18F) positron emission tomography (florzolotau PET) enables high‐contrast in vivo detection of four‐repeat tau pathology in progressive supranuclear palsy (PSP), but whether longitudinal tau imaging reflects disease progression remains unclear.
Yoshikazu Chishiki, Kenji Tagai, Yuko Kataoka, Ryoji Goto, Kenta Osawa, Asaka Oyama, Hideki Matsumoto, Masanori Ichihashi, Yuki Momota, Tetsuji Kamada, Chie Seki, Kiwamu Matsuoka, Kosei Hirata, Shin Kurose, Sho Moriguchi, Yuki Komatsu, Hideo Kato, Yasuharu Yamamoto, Yoshikazu Nakano, Shigeki Hirano, Hitoshi Shinotoh, Hitoshi Shimada, Tokahiko Tokuda, Kazunori Kawamura, Ming‐Rong Zhang, Keisuke Takahata, Makoto Higuchi, Hironobu Endo   +27 more
wiley   +1 more source

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy. [PDF]

J Neurodev Disord
Liu Z, He M, Luo X, Pan H, Hu J, Wan Z, Peng Y, Luo Y, Wang H, Mao X.   +9 more
europepmc   +1 more source

In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA. [PDF]

Cells, 2023
Reichlmeir M, Canet-Pons J, Koepf G, Nurieva W, Duecker RP, Doering C, Abell K, Key J, Stokes MP, Zielen S, Schubert R, Ivics Z, Auburger G.   +12 more
europepmc   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene‐Based Classification and a Reappraisal of the Oculomotor Phenotype

Movement Disorders Clinical Practice, EarlyView.
Luiz Eduardo Novis, Flávio Moura Rezende Filho, Anna Maria Gomes, Victor Rebelo Procaci, Orlando Graziani Povoas Barsottini, José Luiz Pedroso   +5 more
wiley   +1 more source

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

Movement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Alberto Rolim Muro Martinez, Luiza A. Corazza, Luiz Eduardo Novis, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Pedro José Tomaselli, Wilson Marques Jr, Antônio Carlos dos Santos, David Pellerin, Bernard Brais, Roberta La Piana, Jemimah Harding, Penny Snell, Paul J. Lockhart, David Szmulewicz, Ian H. Harding, Marcondes Cavalcante França Jr   +19 more
wiley   +1 more source