Results 61 to 70 of about 21,283 (267)

Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia

Brain Science, 2021
Following the exclusion of potentially reversible causes, the differential for those patients presenting with a predominant upper motor neuron syndrome includes primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), or upper motor neuron ...
T. Fullam, J. Statland
semanticscholar   +1 more source

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

Nature Medicine
There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment.
James J. Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, D. Ebrahimi‐Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M. Greenberg, Xin Chen, B. Minassian, Ronald D. Cohn, Carsten G Bonnemann, Steven J. Gray   +15 more
semanticscholar   +1 more source

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

Neuropediatrics, 2021
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate complex.
D. Ebrahimi‐Fakhari, Julian E. Alecu, Barbara Brechmann, Marvin Ziegler, K. Eberhardt, Hellen Jumo, Angelica D’Amore, P. Habibzadeh, M. Faghihi, Jan L. De Bleecker, S. Vuillaumier-Barrot, S. Auvin, F. Santorelli, Sonja Neuser, B. Popp, E. Yang, L. Barrett, A. Davies, Afshin Saffari, Jennifer Hirst, M. Sahin   +20 more
semanticscholar   +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

A rare case of hereditary spastic paraplegia: Case report

Radiology Case Reports
Hereditary spastic paraplegias represent a rare set of monogenic disorders encompassing 79 distinct genetic variations. The principal culprit behind recessive hereditary spastic paraplegia is frequently attributed to mutations in the spastic paraplegia ...
Aymane Bijbij, MD, Adib Remmal, MD, Habib Bellamlih, PhD, Taoufik Africha, PhD, Soufiane Belabbes, Phd, Brahim Zainoun, PhD   +5 more
doaj   +1 more source

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

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

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

Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28

Biomedicines, 2023
Hereditary spastic paraplegia is a genetic neurological disorder characterized by spasticity of the lower limbs, and spastic paraplegia type 28 is one of its subtypes.
Takuya Morikawa, Masatomo Takahashi, Yoshihiro Izumi, Takeshi Bamba, Kosei Moriyama, Gohsuke Hattori, Ryuta Fujioka, Shiroh Miura, Hiroki Shibata   +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