Results 41 to 50 of about 121,621 (353)
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade+8 more
wiley +1 more source
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs.
Marie Coutelier+33 more
semanticscholar +1 more source
AbstractSpasticity is a wide spectrum disease that affects all age groups. Spasticity in children may have diverse etiologies; this article will focus on children with spasticity, most of whom have diagnoses of cerebral palsy; as approximately two thirds of all cerebral palsy patients suffer from spasticity.
Tamer Rizk, Yasser Awaad
openaire +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini+24 more
wiley +1 more source
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs.
Rita-Eva Varga+18 more
semanticscholar +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman+2 more
wiley +1 more source
Measurement of the Angle of Plantar Flexion An Objective Way of Assessing Muscle Relaxation in Children with Spastic Cerebral Palsy [PDF]
Infants and young children with spastic cerebral palsy (CP) do well with a single daily dose of diazepamgiven at bedtime, as the muscle relaxation decreases the spasticity and faciltates both passive and voluntarymovements.
Mathew A+4 more
doaj
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
wiley +1 more source
Background and objectives: Spasticity, sometimes called hypertonia, makes movement difficult or even impossible. Spastic children with Cerebral Palsy face many health problems that need significant attention at home.
Farida Salim Faqi-Rahid+1 more
doaj +1 more source