Results 41 to 50 of about 16,551 (265)

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

Stem Cell Research, 2021
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1).
Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari   +7 more
doaj   +1 more source

Use of Sugammadex in Strumpell-Lorrain Disease: a Report of Two Cases

Brazilian Journal of Anesthesiology, 2013
Content: : Strumpell-Lorrain disease - or familial spastic paraplegia (FSP) - is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia ...
José Antonio Franco-Hernández, Luis Muñoz Rodríguez, Pilar Jubera Ortiz de Landázuri, Alejandra García Hernández   +3 more
doaj   +1 more source

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications [PDF]

, 2019
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has
Auer-Grumbach, M, Baets, J, Bassi, MT, Bauer, P, D'Angelo, MG, De Bleecker, Jan, De Jonghe, P, Debyser, M, Deconinck, T, Döbler-Neumann, M, Eckstein, KN, Giese, AK, Hörtnagel, K, Janauschek, M, Krägeloh-Mann, I, Lindig, T, Lopez de Munain, A, Münchau, A, Ortibus, E, Plecko, B, Pujol, A, Rattay, TW, Reichbauer, J, Schöls, L, Schüle, R, Smets, K, Söhn, AS, Wiethoff, S, Wilken, B, Züchner, S   +29 more
core   +1 more source

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) [PDF]

, 2016
Objective: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with ...
Baets, Jonathan, Blackstone, Craig, Datiles, Manuel B, De Bleecker, Jan, De Jonghe, Peter, Deconinck, Tine, Edgar, James R, Hirst, Jennifer, Kruer, Michael C, Li, Jun, Liepert, Joachim, Madeo, Marianna, Mariotti, Caterina, Roda, Ricardo H, Schols, Ludger, Smets, Katrien, Van Aken, Elisabeth, Yarrow, Anna, Züchner, Stephan   +18 more
core   +2 more sources

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. [PDF]

PLoS ONE, 2017
Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft   +8 more
doaj   +1 more source

Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family [PDF]

, 2009
Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence
Chan, AYW, Chan, KY, Ching, CK, Lam, CW, Mak, CM   +4 more
core  

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder [PDF]

, 2017
Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a ...
Blake, JC, Horga, A, Houlden, H, Laura, M, Reilly, MM, Rossor, AM, Tomaselli, PJ   +6 more
core   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

SAGE Open Medicine
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many
Wireko Andrew Awuah, Joecelyn Kirani Tan, Anastasiia D Shkodina, Tomas Ferreira, Favour Tope Adebusoye, Adele Mazzoleni, Jack Wellington, Lian David, Ellie Chilcott, Helen Huang, Toufik Abdul-Rahman, Vallabh Shet, Oday Atallah, Jacob Kalmanovich, Riaz Jiffry, Divine Elizabeth Madhu, Kateryna Sikora, Oleksii Kmyta, Mykhailo Yu Delva   +18 more
doaj   +1 more source

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Case Reports in Genetics, 2014
Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis.
Filipa Flor-de-Lima, Mafalda Sampaio, Nahid Nahavandi, Susana Fernandes, Miguel Leão   +4 more
doaj   +1 more source