Disorder (abbreviation) OMIM Clinical hallmarks Inheritance Gene Location Remarks Pure PxDs (normal interepisodic findings) PNKD Paroxysmal nonkinesigenic dyskinesia (PNKD) #118800 Onset in early childhood AD MF1 2q35 Precipitation by caffeine,…
Fig. 9.1 Graphical representation of the WGCNA network. The center of the figure shows the overall network where the nodes (green circles) are modules and the edges are significant correlations…
Gene Transmission Age of onset (years) Major features in MRI brain DaTSCAN PARK-related parkinsonism PARK8 LRRK2 AD ~Mean 60–65 From normal to generalized atrophy Abnormal PARK9 (Kufor–Rakeb) ATP13A2 AR…
Diagnosis Gene Location Protein product Mutation Useful tests Movement disorder Other neurological features Usual age of onset HD HD/IT15 4p15 Huntingtin Expanded CAG repeats – Chorea, dystonia, parkinsonism Ataxia, seizures…
Fig. 1.1 Schematic representation of defined loci and genes for PD, including Mendelian genes and loci identified by association studies. The loci, gene symbols, and chromosomal position are indicated. EO-PD…
SNP ID Locus name Chromosome (bp) Odds ratio rs35749011 GBA/SYT11 1 (155,135,036) 1.824 rs114138760a GBA/SYT12 1 (154,898,185) 1.519 rs823118 RAB7L1/NUCKS1 1 (205,723,572) 1.122 rs10797576 SIPA1L2 1 (232,664,611) 1.131 rs6430538 ACMSD/TMEM163…
Fig. 4.1 Evolution of IA therapy trials over time. More positive trials with newer devices and technology over time. Positive trials: Circles at the upper border, Negative trials: Circle at…
Direct blow to the head and neck Chiropractic neck manipulation Strangulation Atlanto-axial sublaxation Elongated styloid process Cervical spine fracture Basal skull fracture Excessive head banging Beauty parlor syndrome Labor and…
Fig. 8.1 An 83-year-old man without any vascular risk factors developed dysarthria and confusion. DWI showed multiple scattered infarcts in bilateral anterior and posterior circulations. MR angiography, electrocardiography and echocardiography…
Age decade Silent brain infarcts (%) Microbleeds (%) 40–49 1–5 2 50–59 3–8 2–3 60–69 8–15 5–18 70–79 12–20 8–31 80+ 20–35 10–38 Prevalence data are from community- and population-based…
