What's new in?Pantothenate kinase-associated neurodegeneration (Hallervorden–Spatz syndrome)
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Diagnostic Imaging: Brain
2016, Diagnostic Imaging: BrainImaging in Neurology
2016, Imaging in NeurologyMitochondrial protein associated neurodegeneration - Case report
2014, Neurologia i Neurochirurgia PolskaMouse models of neurodevelopmental disease of the basal ganglia and associated circuits
2014, Current Topics in Developmental BiologyCitation Excerpt :Damage to the striatum and associated structures (e.g., pallidum, thalamus) are a common cause of secondary dystonia (Marsden, Obeso, Zarranz, & Lang, 1985; Mehanna & Jankovic, 2013). Metabolic diseases that disrupt striatal function (e.g., Wilson's disease, pantothenate kinase-associated neurodegeneration) also cause secondary dystonia (Gordon, 2002; Lorincz, 2012). There are strong links between dopaminergic dysfunction and dystonia.
Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease
2013, Free Radical Biology and MedicineCitation Excerpt :Moreover, a genetic interaction between LRRK2 and PINK1/parkin is identified in Drosophila [195,196], and PINK1 deficiency-induced mitochondrial morphological abnormalities can be prevented by lrk-1 (Caenorhabditis elegans LRRK2 homolog) deficiency [197]. That LRRK2 may influence mitochondrial dynamics was first implicated in primary human fibroblasts derived from PD patients carrying the LRRK2 G2019S mutant in which increased mitochondrial elongation and interconnectivity along with mitochondrial dysfunction were identified [198]. Most recent studies demonstrated that overexpression of wild-type LRRK2 causes mitochondrial fragmentation and ultrastructural damage along with mitochondrial dysfunction including increased ROS, which is further exacerbated by expression of PD-associated mutants (R1441C or G2019S) in both SH-SY5Y and differentiated primary cortical neurons [199].
Transcranial ultrasound in adults and children with movement disorders
2012, Perspectives in Medicine
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Correspondence: Dr Neil Gordon, Huntlywood, 3 Styal Road, Wilmslow, SK9 4AE, UK; Tel: 01625 525437;e-mail:[email protected]