Direct-to-Consumer DNA Genetic and Genomic Testing
Providing the individual with greater autonomy is a worthwhile goal although it is relevant to all aspects of clinical medicine, not only genetics. To say that genetics is different because…
Genetic Testing, Interpretation of Genetic Test Reports and Genetic Counseling for Clinicians
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…
Genetics of Frontotemporal Dementia
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)…
Genetics of Hereditary Spastic Paraplegias (HSP)
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…
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,…
