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Results 71 to 80 of about 1,518 (174)

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

EMBO Molecular Medicine, 2016
Pantothenate kinase‐associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available.
Daniel I Orellana +15 more
doaj +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari +140 more
wiley +1 more source

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives

Orphanet Journal of Rare Diseases, 2021
Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity,
Mónica Álvarez-Córdoba +8 more
doaj +1 more source

Efficacy of botulinum toxin A treatment in a case of pantothenate kinase associated neurodegeneration (PKAN) [PDF]

BMJ Case Reports, 2011
Our patient is a girl with pantothenate kinase associated neurodegeneration1 and autosomal recessive transmission. She has marked contractions of the lower facial muscles and severe contraction of calf muscles, with both feet in a crooked position, more evident on the right side. Since infancy, she walked …
Crisci, Claudio, ESPOSITO, MARCELLO
openaire +3 more sources

Status Dystonicus in Children: Is it more Common than we Realize?

Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1629-1634, October 2025.
Abstract Background Status dystonicus (SD) is the most severe form of dystonia, affecting predominantly children. SD is thought to be rare, but the incidence is unknown. Objective We aimed to: (1) assess the number of admissions involving SD (2) describe complications/intensive care unit (ICU) transfers, and (3) evaluate whether these changed with ...
Nadia Al Azri +6 more
wiley +1 more source

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

, 2020
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression.
George A Tanteles +8 more
core

Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

Orphanet Journal of Rare Diseases, 2022
Background Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity ...
Mónica Álvarez-Córdoba +10 more
doaj +1 more source

Stable pantetheine derivatives for the treatment of pantothenate kinase associated neurodegeneration (PKAN) and methods for the synthesis of such compounds

, 2015
The invention relates to (S)-acyl-4'-phosphopantetheine derivatives, methods of their synthesis, and related medical uses of such compounds.
Čusak, Alen +8 more
core +3 more sources

Abnormal red cell structure and function in neuroacanthocytosis.

PLoS ONE, 2015
BackgroundPanthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA).
Judith C A Cluitmans +8 more
doaj +1 more source

Overall movement and disability scales in the patients with DYT-1 dystonia, PKAN, and tardive dystonia.

, 2016
Patients with DYT-1 dystonia showed an abrupt decrease in motor and disability scores, and a sustained improved state during the follow-up period. Patients with PKAN had relatively higher motor and disability scores preoperatively.
Gwanhee Ehm (844308) +18 more
core +1 more source

pantothenate kinase-associated neurodegeneration
humans
3. good health

female
phosphotransferases alcohol group acceptor
dystonia

adult
coenzyme a
pank2