Fig. 19.1 Common pedigree symbols, definitions, and abbreviations (Adapted from Bennett et al. [4]) Key information to record on a pedigree includes [4] Age and/or year of birth Age and…
Molecular class Major pathological subtypes Associated genes FTLD-tau PiD CBD PSP AGD MSTD NFT-dementia WMT-GGI Unclassifiable MAPT FTLD-TDP Types 1–4 Unclassifiable GRN VCP C9orf72 (TARDBP) FTLD-FUS aFTLD-U NIFID BIBD (FUS)…
Diagnostic test Differential diagnosis Cranial MRI Bilateral structural lesions Leukodystrophies Arnold-Chiari malformation MRI of the spinal cord Myelon compression due to cervical myelopathy and tumor Hemorrhage and abscess Arteriovenous malformation…
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) –…
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…
