Fig. 13.1 Neuropathological hallmarks of pantothenate kinase-associated neurodegeneration (PKAN), representative of NBIA. (a) Typical Perl’s stained iron deposits in the globus pallidus of a PANK2-positive case. Scale: 200 μm, low…
© Springer International Publishing Switzerland 2015Susanne A. Schneider and José M. Tomás Brás (eds.)Movement Disorder Genetics10.1007/978-3-319-17223-1_22 22. Current Ethical Issues Related to the Implementation of Whole-Exome and Whole-Genome Sequencing Pascal Borry1 , Davit Chokoshvili1, Emilia Niemiec2, 3, 4, Louiza Kalokairinou1,…
Ataxia telangiectasia Dystonia, monogenic forms Hereditary peripheral neuropathies, monogenic forms Hereditary spastic paraplegias, monogenic forms Huntington disease Neurodegeneration with brain iron accumulation (NBIA), monogenic forms Parkinson disease, monogenic forms Paroxysmal…
© Springer International Publishing Switzerland 2015Susanne A. Schneider and José M. Tomás Brás (eds.)Movement Disorder Genetics10.1007/978-3-319-17223-1_18 18. Genetics of Mitochondrial Disease with Focus on Movement Disorders Josef Finsterer1 and Salma Majid Wakil2 (1) Krankenanstalt Rudolfstiftung (KAR), Vienna, 1180,…
Chr Region (hg19) Peak marker Size Max LOD Model Replication Reference (Mb) status 12q12–21 94176800-104264737 D12S1044 10.09 3.59 Auto rec + [47] 94176800 Pseudodominant 14q13–21 34459194-47133518 D14S288 12.68 3.23 Auto…
Gene/protein symbol Protein name Synonym Major substrate Other substrates Comments Cellular import CACNA1a Calcium channel, voltage dependent Ca2+ Mn2+, Fe2+ N, L, R, T, and P/Q types (many subunits) GRIN…
Disorder (abbreviation) OMIM Clinical hallmarks Inheritance Gene Location Remarks Pure PxDs (normal interepisodic findings) PNKD Paroxysmal nonkinesigenic dyskinesia (PNKD) #118800 Onset in early childhood AD MF1 2q35 Precipitation by caffeine,…
Fig. 9.1 Graphical representation of the WGCNA network. The center of the figure shows the overall network where the nodes (green circles) are modules and the edges are significant correlations…
Gene Transmission Age of onset (years) Major features in MRI brain DaTSCAN PARK-related parkinsonism PARK8 LRRK2 AD ~Mean 60–65 From normal to generalized atrophy Abnormal PARK9 (Kufor–Rakeb) ATP13A2 AR…
Diagnosis Gene Location Protein product Mutation Useful tests Movement disorder Other neurological features Usual age of onset HD HD/IT15 4p15 Huntingtin Expanded CAG repeats – Chorea, dystonia, parkinsonism Ataxia, seizures…
