Pure cerebellar syndrome SCA5, SCA6, SCA11, SCA26 Cerebellar ataxia combined with extra-cerebellar deficits (“ataxia plus”) Cognitive deficits and/or behavioral symptoms SCA1, SCA2, SCA3, SCA10, SCA12, SCA13, SCA14, SCA17, SCA19, SCA21,…
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned, twisting, and may be tremulous….
Fig. 17.1 Genomic locations of genes that have been studied in the biology of ALS. A complete account of every mutation that has been studied in the biology of ALS,…
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,…
