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[Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
The Impact of Low-Level Laser Therapy on Spasticity in Children with Spastic Cerebral Palsy: A Systematic Review.
Brain Sci
November 2024
The Carrick Institute, Cape Canaveral, FL 32920, USA.
Context: Spastic cerebral palsy (SCP) is a condition characterized by muscle stiffness and involuntary movements, which greatly affect movement abilities and overall well-being. Low-level laser therapy (LLLT) has emerged as a treatment option for managing spasticity, though the current evidence varies.
Objective: This systematic review seeks to assess the efficacy of LLLT on spasticity in children with cerebral palsy.
Botulinum toxin type A for the treatment of patients with post-stroke spasticity in Thailand: cost-utility and budget impact analysis.
BMJ Open
January 2025
Siriraj Health Policy Unit, Mahidol University Faculty of Medicine Siriraj Hospital, Bangkok, Thailand
Objectives: To evaluate the cost-utility of botulinum toxin A (BoNT-A) for treating upper limb (UL) and lower limb (LL) post-stroke spasticity.
Design: Using a Markov model, adopting a societal perspective and a lifetime horizon with a 3% annual discount rate, the cost-utility analysis was conducted to compare BoNT-A combined with standard of care (SoC) with SoC alone. Costs, utilities, transitional probabilities and treatment efficacy were derived from 5-year retrospective data from tertiary hospitals and meta-analysis.
A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants.
BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
View Article and Find Full Text PDFAcupuncture as an Adjunct Treatment in Stiff Person Syndrome.
Med Acupunct
October 2024
Department of Family Medicine, West Virginia University, Morgantown, West Virginia, USA.
Objective: Stiff person syndrome (SPS) is a rare neurological disorder. Treatments are limited, and non-pharmacologic therapies are recommended based on symptomatology. A G2P2002 post-menopausal 60-year-old female with hypertension, obesity, and type II diabetes, and SPS secondary to a paraneoplastic process cause by endometrioid ovarian adenocarcinoma who presented to acupuncture clinic seeking treatment for SPS and its sequela.
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