Results 51 to 60 of about 1,518 (174)
Update on Genetic Chorea. [PDF]
Eur J NeurolThis review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Pérez-Pérez J +5 more
europepmc +2 more sources
EYE OF THE TIGER SIGN (PKAN DISEASE)
THE GENESIS, 2022 Having the “eye of the tiger” means being laser-focused on achieving a singular goal. Being “in the eye of the tiger” refers to being in a “kill or be killed” situation. Pantothenate kinase-associated neuro degeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system as “Eye of the Tiger.” Researchers’ sought to ...
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Relative Contribution of Plaques, Tangles, and PKAN Neurons in Patients with Cognitive Impairment
, 2018 Dementia is cognitive impairment often associated with old age diseases namely, Alzheimer\u27s Disease. However, contrary to popular beliefs, dementia is divided into multiple subgroups according to age and disease progression. Interestingly, patients in
Nguyen, Vy H.
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, 2023 Pantothenate Kinase-related Neurodegeneration (PKAN) is an Autosomal Recessive (AR) inherited disease identified by focal iron accumulation in the basal ganglia. Formerly recognized as Hallervorden-Spatz disease.
Maqbool, Ali +4 more
core
Pantothenate Kinase-associated Neurodegeneration with Dysarthria
Indian Journal of Physical Medicine & RehabilitationPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disease with brain iron accumulation (NBIA), caused by mutation in the PANK2 gene. Patients can have classic or atypical presentations.
Rabia Uddin, Suman Badhal, Annie Mathew
doaj +1 more source
A Case Report on Pantothenate Kinase -Associated Neurodegeneration [PKAN]
, 2023 Pantothenate kinase- associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome, is a rare inherited autosomal recessive disorder. It is a neurological movement disorder, is mainly caused by mutation in the PKAN2 gene. PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA).On magnetic resonance ...
Kyatham Madhulatha +3 more
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Long‐Term Outcomes of Deep Brain Stimulation in Woodhouse–Sakati Syndrome
Movement Disorders, EarlyView.Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with distinctive neuroendocrine manifestations, with dystonia being the most common. No clear guidelines are available for the treatment of dystonia in WSS. Objective The aim was to analyze the impact of deep brain stimulation (DBS) on WSS‐associated dystonia ...
Hend Alhodaif +5 more
wiley +1 more source
The FEBS Journal, Volume 293, Issue 11, Page 3288-3302, June 2026.Cystine (Cys2) deprivation in pancreatic cancer cells induces oxidative stress that destabilizes cytosolic iron–sulfur cluster (ISC) proteins, triggering an iron‐regulatory protein (IRP)‐mediated iron‐starvation response (ISR). This leads to increased iron uptake (via TFRC), an expanded labile iron pool, and ferroptosis.
Mingjun Tan +8 more
wiley +1 more source
Parkinson's Disease, 2010 Pantothenate kinase-associated neurodegeneration (PKAN) is a familial or sporadic disease characterized by extrapyramidal and corticospinal signs with dementia. Patients show iron accumulation in the basal ganglia, with neuronal loss and gliosis.
Maria Livia Fantini +8 more
doaj +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 453-465, March 2026.ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source