© Springer Science+Business Media Dordrecht 2015Manuel F. Casanova and Ioan Opris (eds.)Recent Advances on the Modular Organization of the Cortex10.1007/978-94-017-9900-3_11 11. Cytoarchitectural Modules: Functional Specialisation and Disruption in Neuropsychiatric Disorders Steven Chance1 (1) Neuropathology Department, University…
© Springer Science+Business Media Dordrecht 2015Manuel F. Casanova and Ioan Opris (eds.)Recent Advances on the Modular Organization of the Cortex10.1007/978-94-017-9900-3_2 2. Vernon Benjamin Mountcastle Manuel F. Casanova1 (1) Department of Psychiatry, University of Louisville, Louisville, KY, USA…
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…
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,…
