Results 51 to 60 of about 775,507 (181)

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

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

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +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

Temporomandibular joint disorder and gross motor function in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To determine the prevalence of the clinical signs and symptoms of temporomandibular joint (TMJ) disorder (TMD) in children with cerebral palsy (CP) and to examine their associations with severity of gross motor impairment, CP subtype, and caregiver‐reported bruxism. Method This cross‐sectional study included 517 children with CP (mean age =
Özge Baykan Çopuroğlu, Baki Umut Tuğay, Muhammet Furkan Vatan   +2 more
wiley   +1 more source

Spectrum of MND registered in Peking Union Medical College Hospital (n = 143).

, 2015
ALS, amyotrophic lateral sclerosis; MND, motor neuron disease; PBP, progressive bulbar palsy; PLS, progressive lateral sclerosis; PMA, progressive muscular atrophy.
Mingsheng Liu (749595), Junfang Ma (749596), Xiaoguang Li (148206), Jia Fang (749597), Liying Cui (13927), Qingyun Ding (749598), Bo Cui (574988)   +6 more
core   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +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

Neuroanatomy education through the years: Revisiting the teaching slides used by Sir Wilfrid Edward Le Gros Clark

Journal of Anatomy, EarlyView.
This paper examines the life and legacy of British anatomist Sir Wilfrid Le Gros Clark through his neuroanatomical teaching collection at the University of Oxford. The authors catalogued 103 specimens and analyzed selected slides—including cases of multiple sclerosis, amyotrophic lateral sclerosis, tabes dorsalis, syringomyelia, and the pineal gland's ...
Shiva A. Nischal, Kush M. Kale, Katherine Tourigny, Mohammed Abuelem, Gretchen Greene, Rachel Walsh, Zoltán Molnár   +6 more
wiley   +1 more source