The presence of phenylethylamine (PEA) in human urine was demonstrated by several investigators (Jepson et al., 1960; Perry, 1962; Oates et al., 1963; Fischer et al., 1968; Boulton and Mil-ward, 1971; Fischer et al., 1972; Mosnaim and Inwang, 1973; Schweitzer et al., 1975). Further, a decrease of PEA was reported in the urine of depressed patients (Fischer et al., 1972; Rodriguez Casanova and F...

Multiple system atrophy is an adult onset neurodegenerative disease, featuring parkinsonism, ataxia, and autonomic failure, in any combination. The condition is relentlessly progressive and responds poorly to treatment. Death occurs on average six to seven years after the onset of symptoms. No familial cases of multiple system atrophy have been reported, and no environmental factors have been r...

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings. We report a case of atypical PKAN presenting with generalized dystonia. Our patient had compound heterozygous mutations in the PANK2 gene, including mutation in exon 3 (p.D268G) an...

Pantothenate kinase-associated neurodegeneration (PKAN), a progressive neurodegenerative disorder, is associated with impairment of pantothenate kinase function. Pantothenate kinase is the first enzyme required for de novo synthesis of CoA, an essential metabolic cofactor. The pathophysiology of PKAN is not understood, and there is no cure to halt or reverse the symptoms of this devastating dis...

BACKGROUND AND PURPOSE It has been reported that iron concentration influences DTI metrics in deep gray matter nuclei. We hypothesized that increased FA in the deep gray nuclei may indicate abnormal iron accumulation in patients with PKAN and their siblings. MATERIALS AND METHODS Seven patients with the characteristic "eye-of-the-tiger sign," their 5 siblings, and 5 age-matched controls were ...

The effect of expressing human huntingtin fragments containing polyglutamine (polyQ) tracts of varying lengths was assessed in Caenorhabditis elegans ASH sensory neurons in young and old animals. Expression of a huntingtin fragment containing a polyQ tract of 150 residues (Htn-Q150) led to progressive ASH neurodegeneration but did not cause cell death. Progressive cell death and enhanced neurod...

Cognitive task performance was assessed in three groups of young people: 10 regular users of 3,4-methylenedioxymethamphetamine (MDMA) who had taken 'ecstasy' 10 times or more; 10 novice MDMA users who had taken 'ecstasy' one to nine times; and 10 control subjects who had never taken MDMA. A computerized battery of cognitive tasks (Cognitive Drug Research system) was undertaken on a day when sub...

Neuroaxonal dystrophy (NAD) is a neurodegenerative disease characterized by severe axonal swelling (spheroids) throughout the nervous system. In dogs, NAD has been reported in several breeds and a missense mutation in PLA2G6 gene has recently been identified in the Papillon dog NAD. Here we performed ultrastructural analysis to clarify the detailed ultrastructural features of the Papillon dog N...

Pantothenate-Kinase-Associated-Neurodegeneration (PKAN) is a devastating disease, resulting from mutations in pantothenate kinase 2 (PANK2), one of the four human pantothenate kinase genes (PANK1-4). Interestingly, PanK2 appears to be the only mitochondria-targeted human PanK. It is unknown whether the mitochondria-targeted PanK is associated with any unique function, nor whether PKAN is due so...

BACKGROUND Pantothenate kinase associated neurodegeneration (PKAN) is the most prevalent type of neurodegeneration with brain iron accumulation (NBIA) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on T2 brain magnetic resonance imaging (MRI) characterized by hypointensity in globus pallidus and a hyperintensity in its core. All PKAN patients have homozygous or compound...