Genetics of Frontotemporal Dementia

Jun 14, 2017 by in NEUROLOGY Comments Off on 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)…

read more

Genetics of Hereditary Spastic Paraplegias (HSP)

Jun 14, 2017 by in NEUROLOGY Comments Off on 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…

read more

Genetics of Recessive Ataxias

Jun 14, 2017 by in NEUROLOGY Comments Off on 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) –…

read more

Genetics of Dominant Ataxias

Jun 14, 2017 by in NEUROLOGY Comments Off on 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,…

read more

Genetics of Dystonia

Jun 14, 2017 by in NEUROLOGY Comments Off on 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….

read more

Genetics of ALS

Jun 14, 2017 by in NEUROLOGY Comments Off on 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,…

read more

Genetics of NBIA Disorders

Jun 14, 2017 by in NEUROLOGY Comments Off on 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…

read more

Current Ethical Issues Related to the Implementation of Whole-Exome and Whole-Genome Sequencing

Jun 14, 2017 by in NEUROLOGY Comments Off on 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,…

read more
Premium Wordpress Themes by UFO Themes