Results 51 to 60 of about 735,253 (191)

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

Isolated unilateral palatal and vocal cord palsy as an initial presentation of chronic inflammatory demyelinating polyradiculoneuropathy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2019
Introduction Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired autoimmune disease of the peripheral nervous system. Its clinical presentation and excellent response to steroids is a hallmark to the disease entity.
Madhavi Karri, Balakrishnan Ramasamy
doaj   +1 more source

Severe neuropathic attack in a woman with acute intermittent porphyria: a case report

Journal of International Medical Research, 2021
Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease with a broad spectrum of clinical manifestations, and can be easily confused with other diseases.
Shiqian Huang, Ruiting Li, Yin Yuan
doaj   +1 more source

A CADASIL Case Presenting with Progressive Bulbar Palsy Caused by Acute Simultaneous Multiple Subcortical Infarcts

Bezmiâlem Science, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited small vessel disease of the brain caused by NOTCH3 mutations.
Elif GÖKÇAL, Mehmet KOLUKISA, Nihat MUSTAFAYEV, Talip ASİL   +3 more
doaj   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

A case report of adult-onset Alexander disease clinically presenting as Parkinson’s disease: is the comorbidity associated with genetic susceptibility?

BMC Neurology, 2020
Background Alexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders ...
Jongkyu Park, Sung-Tae Park, Jieun Kim, Kyum-Yil Kwon   +3 more
doaj   +1 more source

Disease severity and progression in progressive supranuclear palsy and multiple system atrophy: validation of the NNIPPS--Parkinson Plus Scale. [PDF]

PLoS ONE, 2011
The Natural History and Neuroprotection in Parkinson Plus Syndromes (NNIPPS) study was a large phase III randomized placebo-controlled trial of riluzole in Progressive Supranuclear Palsy (PSP, n = 362) and Multiple System Atrophy (MSA, n = 398).
Christine A M Payan, François Viallet, Bernhard G Landwehrmeyer, Anne-Marie Bonnet, Michel Borg, Franck Durif, Lucette Lacomblez, Frédéric Bloch, Marc Verny, Jacques Fermanian, Yves Agid, Albert C Ludolph, Peter N Leigh, Gilbert Bensimon, NNIPPS Study Group   +14 more
doaj   +1 more source

Striatal dopaminergic lesions contributed to the disease severity in progressive supranuclear palsy

Frontiers in Aging Neuroscience, 2022
BackgroundReduced dopamine transporter (DAT) binding in the striatum has been reported in patients with progressive supranuclear palsy (PSP). However, the relationship between striatal dopaminergic lesions and the disease severity of PSP remains to be ...
Ming-Jia Chen, Jia-Ying Lu, Xin-Yi Li, Fang-Yang Jiao, Chuan-Tao Zuo, Chuan-Tao Zuo, Jian Wang, Feng-Tao Liu, Yu-Jie Yang, Yu-Jie Yang   +9 more
doaj   +1 more source

Incidence of unplanned gastrostomy tube replacements and associated complications in people with motor neurone disease and other conditions: A retrospective audit of an Australian dietitian‐led clinic

Nutrition in Clinical Practice, EarlyView.
Abstract Background Gastrostomy tube placement is a common intervention for long‐term nutrition in people with dysphagia. Minimising complications such as tube dislodgement is integral in gastrostomy management, as unplanned replacements may require urgent care to prevent stoma closure.
Emily Farrugia, Shanelle Bailey, Adam I. Semciw, Mani Suleiman, Mark Tacey, Caroline J. Tuck, Liam M. Hannan   +6 more
wiley   +1 more source

Does acute passive stretching increase muscle length in children with cerebral palsy? [PDF]

, 2013
This article has been made available through the Brunel Open Access Publishing Fund. Copyright @ The Authors. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use ...
Theis, Nicola, Amir A. Mohagheghi, Mohagheghi, AA, Korff, Thomas, Thomas Korff, Nicola Theis, Korff, T, Kairon, H, Mohagheghi, Amir A., Mohagheghi, Amir A, Harvey Kairon, Kairon, Harvey, Theis, N, Hoenshell, Brittney   +13 more
core   +1 more source