نتایج جستجو برای: pantothenate kinase associated neurodegeneration
تعداد نتایج: 1714897 فیلتر نتایج به سال:
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly affect the basal ganglia and are associated with similar neurological symptoms. PKAN is also assigned to a group of rare neurodegenerative diseas...
1 of 1 DESCRIPTION Our patient is a girl with pantothenate kinase associated neurodegeneration 1 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 abnormally and was unstable when standing, due to progressive hyperton...
Pantothenatekinase-associated neurodegeneration is a rare progressive disorder characterized by dystonia, rigidity, choreoathetosis and mental deterioration. Patients requiring general anesthesia with this syndrome may have many anesthesia-relevant symptoms that influence the preanesthetic management, the induction of anesthesia and the postoperative care. In this case report, we present the an...
Neurodegeneration with brain iron accumulation (NBIA) is a rare, progressive neurodegenerative disorder with extrapyramidal and cognitive clinical symptoms characterized by iron accumulation predominantly in the globus pallidus, cs well as extensive axonal spheroids in various regions of the brain. Recent studies indicate multiple genetic causes, however the illness can occur without obvious ge...
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We herein report the case of a 15-year-old male patient with pantothenate kinase-associated neurodegeneration. The classic "eye-of-the-tiger" appearance was initially present on the globus pallidi on T2-weighted MR images and had disappeared by the time of the 10-month follow-up examination. Fluid-attenuated inversion recovery images revealed marked hypointensity in the globus pallidi and denta...
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common form of neurodegeneration with brain iron accumulation, it is an autosomal recessive disease due to mutation in PANK 2 on chromosome 20, which causes the accumulation of iron in basal ganglia and production of free radicals that cause degeneration of the cells. Deferiprone is an iron chelator that was used in treatment o...
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