Results 101 to 110 of about 1,452,519 (228)

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +1 more source

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Scientific Reports, 2017
KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A
Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee   +8 more
doaj   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

Walsh & Hoyt: Autosomal-Dominant Optic Atrophy, Deafness and Ophthalmoplegia

, 2005
Treft et al. described a syndrome affecting 23 members of five generations of a Utahfamily characterized by optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. The visual loss was first noted between the ages of 6 and 19 years, with
Nancy J. Newman, MD
core  

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

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

BMC Medical Genetics, 2009
Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies.
Amati-Bonneau Patrizia, Thoraval Didier, Murail Pascal, Chevrollier Arnaud, Rocher Christophe, Ferré Marc, Pierron Denis, Reynier Pascal, Letellier Thierry   +8 more
doaj   +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

Autosomal Dominant Optic Atrophy: A Sheep in Wolf\u27s Clothing?

, 1996
We report the first known pedigree in which autosomal dominant optic atrophy (ADOA) and a protan defect have presented simultaneously. An asymptomatic college coed presented in referral with decreased vision and visual fields suggestive of chiasmal ...
Steven E. Katz, MD; M. Lubow, MD; M. Earley, OD
core  

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY

, 2022
Autosomal dominant optic atrophy (OPA1) maps to Chromosome (Chr) 3q28, and the disease interval has been refined to within 1.4 cM, flanked by the markers D3S3669 and D3S3562.
Payne, Annette M., Votruba, Marcela, Bhattacharya, Shom Shanker, Moore, Anthony T.   +3 more
core   +1 more source