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A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy.
Mov Disord Clin Pract
January 2025
Department of Neurology, Hannover Medical School, Hannover, Germany.
Background: Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.
View Article and Find Full Text PDFHeterozygous variants in AP4S1 are not associated with a neurological phenotype.
Ann Clin Transl Neurol
January 2025
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
View Article and Find Full Text PDFSleep and circadian dysfunction in Parkinson disease: New perspective and opportunities for treatment.
Handb Clin Neurol
January 2025
Department of Neurology and Clinical Research Center of Neurological Disease, Second Affiliated Hospital of Soochow University, Suzhou, China.
Sleep and circadian dysfunction are common nonmotor symptoms in patients with Parkinson disease (PD). Sleep and circadian dysfunction usually have a significant negative impact on quality of life and may also serve as markers to identify patients in the preclinical stage of PD. Sleep disturbances have different types in PD such as insomnia, excessive daytime sleepiness, rapid eye movement sleep behavior disorders, restless legs syndrome, and sleep-disordered breathing.
View Article and Find Full Text PDFThis study investigated two cases. Case 1 involves a 53-year-old man who suffered from sleep apnea syndrome at age 48. Moreover, he was involved in a rear-end collision while driving and was admitted to the hospital at age.
View Article and Find Full Text PDFα-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
J Neuropathol Exp Neurol
January 2025
Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.
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