Results 61 to 70 of about 16,402 (224)

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group   +23 more
wiley   +1 more source

CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76

Case Reports in Neurological Medicine, 2019
Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We
Jesus Eduardo Garcia-Berlanga, Mariana Moscovich, Isaac Jair Palacios, Alejandro Banegas-Lagos, Augusto Rojas-Martinez, Daniel Martinez-Ramirez   +5 more
doaj   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls   +4 more
doaj   +1 more source

Genetic and phenotypic characterization of complex hereditary spastic paraplegia [PDF]

, 2016
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological ...
Bettencourt, Conceicao, Bhatia, Kailash, Brandner, Sebastian, Chelban, Viorica, Elpidorou, Marilena, Federoff, Monica, Hamed, Sherifa, Hardy, John, Haridy, Nourelhoda, Houlden, Henry, Hughes, Deborah, Jaunmuktane, Zane, Kara, Eleanna, Korlipara, Prasad, Lewis, Patrick, Lynch, David S., Manole, Andreea, Manzoni, Claudia, Morris, Huw, Pittman, Alan, Preza, Elisavet, Proukakis, Christos, Schottlaender, Lucia, Singleton, Andrew, Tucci, Arianna, Warner, Tom, Wiethoff, Sarah, Wood, Nicholas, Xiromerisiou, Georgia   +28 more
core   +3 more sources

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Philip Höflinger, Yvonne Theurer, Rebecca Schüle, Ludger Schöls, Stefan Hauser   +4 more
doaj   +1 more source

A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene

eNeurologicalSci, 2022
Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity,
Kensuke Daida, Yosuke Nishioka, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Nobutaka Hattori, Kenya Nishioka   +6 more
doaj   +1 more source

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA, BILO, LEONILDA, CRISCUOLO, CHIARA, de Leva M.F., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Longo D., Pappatà S., PELUSO, SILVIO, QUARANTELLI, MARIO, Santorelli F.M., Tessa A.   +11 more
core  

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source