Genetics of Recessive Ataxias
SCAR (OMIM) Disease Gene (OMIM) SCAR1 (606002) AOA2 SETX (608465) SCAR2 (213200) CPDIII – SCAR3 (271250) SCABD – SCAR4 (607317) SCASI – SCAR5 (606937) CAMOS ZNF592 (613624) SCAR6 (608029) –…
Genetics of Dominant Ataxias
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,…
Genetics of Dystonia
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….
Genetics of ALS
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,…
Genetics of NBIA Disorders
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…
Current Ethical Issues Related to the Implementation of Whole-Exome and Whole-Genome Sequencing
© 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,…
Genetics of Primary Tremor Disorders
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…
Genetics of Mitochondrial Disease with Focus on Movement Disorders
© 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,…
Genetics of Restless Legs Syndrome (RLS)
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…
Genetics of Metal Disorders (Excluding NBIA)
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…
