Results 81 to 90 of about 132,494 (221)

The Hereditary Spastic Paraplegias [PDF]

Archives of Neurology, 2003
The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. There have been great strides in our knowledge of this group of disabling disorders; 20 HSP loci and 9 HSP genes have been discovered.
openaire   +2 more sources

Caring for a child with cerebral palsy in rural Malawi: A mixed‐methods study of caregiver experiences and support needs

Developmental Medicine &Child Neurology, EarlyView.
Caregivers of children with cerebral palsy in rural Malawi experience substantial physical, psychological, social, and economic burden. Caregiving often limits income, education, and social participation, while stigma and weak support intensify isolation.
Bente van der Meijden, Henderika Johanna Wedda, Alpheus Njewa, Alinafe Chisulanda Kusate, Ria Reis, Wieger Voskuijl   +5 more
wiley   +1 more source

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) [PDF]

, 2017
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons.
Vangheluwe, Peter, De Rycke, Riet, Holemans, Tine, Asselbergh, Bob, Samuel, Jean, Schoels, Ludger, Chang, Dae-In, Estrada-Cuzcano, Alejandro, Sorensen, Danny Mollerup, Schöls, Ludger, Synofzik, Matthis, Schüle, Rebecca, Klein, Christine, Mollerup Sørensen, Danny, Chamova, Teodora, Pöppel, Thorsten, Reichbauer, Jennifer, Jordanova, Albena, van Veen, Sarah, Zuchner, Stephan, Martin, Shaun, Andreeva, Albena, Sørensen, Danny Mollerup, Timmann, Dagmar, Tournev, Ivailo   +24 more
core   +1 more source

Bringing cellular clarity to the cortical component of ALS with a high‐density multi‐electrode array system

The FEBS Journal, EarlyView.
High density multi‐electrode (HD‐MEA) systems enable detailed investigation of healthy and diseased brains in 2D and 3D. Here, we summarise the significance of single‐cell electrophysiology, advantages of the MEA systems with high spatio‐temporal resolution and a large number of recording sites, enabling complex network analysis.
Zehra Yagmur Erol, Christopher Quintanilla, P. Hande Ozdinler   +2 more
wiley   +1 more source

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10) [PDF]

, 2002
We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia.
Kloos, Mark, Ashley-Koch, Allison, Bevan, Simon, Gaskell, Perry C., Svenson, Ingrid K, Reid, Evan, Svenson, Ingrid K., Dearlove, Andrew, Gaskell, Perry C, Pericak-Vance, Margaret A., Pericak-Vance, Margaret A, Graham, Felicia Lennon, Rubinsztein, David C, Rubinsztein, David C., Marchuk, Douglas A., Hughes, Lori, Marchuk, Douglas A   +16 more
core   +1 more source

Investigating the Relationship Between Sensory Processing, Pain and Toe Walking Gait: A Survey Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study aimed to examine sensory processing patterns, the frequency and impact of parent‐reported pain in children who toe walk across a range of diagnoses using validated caregiver‐report tools. Methods An online cross‐sectional survey was distributed internationally between July 2024 and March 2025.
Jack H. Donne, Verity Pacey, Desiree Polt, Jennifer A. Powell, Michael C. Fahey, Cylie M. Williams   +5 more
wiley   +1 more source

Understanding the Reproductive Life Planning Experiences of People With Disabilities in Ontario, Canada: A Qualitative Exploration

Perspectives on Sexual and Reproductive Health, EarlyView.
ABSTRACT Introduction Reproductive life planning can be a valuable component of reproductive health promotion. However, little is known about attitudes, desires, and intentions regarding pregnancy among people with disabilities. This exploratory qualitative study aimed to understand the reproductive life planning experiences of women and gender‐diverse
Momina Khan, Hilary K. Brown, Yona Lunsky, Lesley A. Tarasoff   +3 more
wiley   +1 more source

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism

, 2011
BACKGROUND: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus
Guidubaldi, Arianna, Petracca, Martina, Bentivoglio, Anna Rita, Silvestri, Gabriella   +3 more
core   +1 more source

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia [PDF]

, 2017
Contains fulltext : 174824.pdf (Publisher’s version ) (Open Access)INTRODUCTION: Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debilitating symptoms, as they frequently result in ...
Warrenburg, B.P.C. van de, J Nonnekes, B Warrenburg, Geurts, A.C.H., Lith, B.J.H. van, V Weerdesteyn, B Lith, A Geurts, Weerdesteyn, V.G.M., Nonnekes, J.H.   +9 more
core   +2 more sources

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model

Disease Models & Mechanisms, 2017
The S113R mutation (c.339T>G) (MIM #603690.0001) in SLC33A1 (MIM #603690), an ER membrane acetyl-CoA transporter, has been previously identified in individuals with hereditary spastic paraplegia type 42 (SPG42; MIM #612539).
Pingting Liu, Baichun Jiang, Jian Ma, Pengfei Lin, Yinshuai Zhang, Changshun Shao, Wenjie Sun, Yaoqin Gong   +7 more
doaj   +1 more source