Results 131 to 140 of about 21,283 (267)

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia [PDF]

, 2017
De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
Auranen, Mari, Cooper, Helen, Euro, Liliya, Isohanni, Pirjo, Kaakkola, Seppo, Khairullin, Rafil, Lin, Kai-Lan, Lin, Kai-Lan, Lönnqvist, Tuula, Trokovic, Ras, Tyynismaa, Henna, Wanrooij, Sjoerd, Woldegebriel, Rosa, Wolf, Alexander, Yang, Yang, Ylikallio, Emil   +15 more
core   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Brain : a journal of neurology, 2023
S. Srivastava, Hagar Mor Shaked, K. Gable, Sita D Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, P. Mohassel, M. Gotkine, Elizabeth Doney, P. Goldenberg, Q. Tan, Yi Gong, B. Kleinstiver, Brian D. Wishart, H. Cope, Claudia Brito Pires, Hannah E. Stutzman, Rebecca C Spillmann, R. Sadjadi, O. Elpeleg, Chia-Hsueh Lee, H. Bellen, S. Edvardson, F. Eichler, T. Dunn   +25 more
semanticscholar   +1 more source

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

European Journal of Human Genetics, 2019
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
M. Pennings, M. Schouten, J. van Gaalen, R. Meijer, S. D. de Bot, M. Kriek, C. Saris, L. H. van den Berg, M. V. van Es, D. M. H. Zuidgeest, M. Elting, J. M. van de Kamp, K. V. van Spaendonck‐Zwarts, C. D. Die-Smulders, E. Brilstra, Corien Verschuuren, B. D. de Vries, J. Bruijn, K. Sofou, F. Duijkers, B. Jaeger, J. Schieving, B. P. van de Warrenburg, E. Kamsteeg   +23 more
semanticscholar   +1 more source

Hereditary spastic paraplegia.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie, 2009
Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two
Eugenia, Roşulescu, Cosmina, Stănoiu, Elena, Buteică, B, Stănoiu, F, Burada, Mihaela, Zăvăleanu   +5 more
openaire   +1 more source

Hereditary spastic paraplegias

Neuromuscular Diseases
Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinical signs hereditary spastic paraplegias are divided into uncomplicated (classic) and complicated forms ...
R. F. Kutlubaeva, M. A. Kutlubaev, R. V. Magzhanov, E. V. Sayfullina, I. M. Khidiyatova   +4 more
openaire   +2 more sources

Loss of strumpellin in the melanocytic lineage impairs the WASH Complex but does not affect coat colour [PDF]

, 2016
The five-subunit WASH complex generates actin networks that participate in endocytic trafficking, migration and invasion in various cell types. Loss of one of the two subunits WASH or strumpellin in mice is lethal, but little is known about their role in
Insall, Robert H., Machesky, Laura M., Spence, Heather J., Strathdee, Douglas, Tyrrell, Benjamin J., Woodham, Emma F.   +5 more
core   +1 more source

Glutamate Delta 1 Receptor in Synapses, Circuits, and Disease

European Journal of Neuroscience, Volume 63, Issue 3, February 2026.
This review discusses our current understanding of the structure–function, expression and roles in neural circuits of the less studied glutamate delta 1 (GluD1) receptor. Converging data suggests many unique features of GluD1 including expression at both excitatory and inhibitory synapses and binding to D‐serine and GABA.
Diane Choi, Poojashree B. Chettiar, Yoland Smith, Shashank M. Dravid   +3 more
wiley   +1 more source

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

American Journal of Neuroradiology, 2019
BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing
B. Pascual, S. D. de Bot, M. Daniels, M. França, C. Toro, M. Riverol, P. Hedera, M. Bassi, N. Bresolin, B. V. D. van de Warrenburg, B. Kremer, J. Nicolai, P. Charles, J. Xu, S. Singh, N. Patronas, S. Fung, M. Gregory, J. C. Masdeu   +18 more
semanticscholar   +1 more source