Genetics of Atypical Parkinsonism

Jun 14, 2017 by in NEUROLOGY Comments Off on Genetics of Atypical Parkinsonism

  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…

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Genetic Choreas

Jun 14, 2017 by in NEUROLOGY Comments Off on Genetic Choreas

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…

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Genetics of Mendelian Forms of Parkinson’s Disease

Jun 14, 2017 by in NEUROLOGY Comments Off on Genetics of Mendelian Forms of Parkinson’s Disease

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…

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Genetics of Parkinson’s Disease

Jun 14, 2017 by in NEUROLOGY Comments Off on Genetics of Parkinson’s Disease

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…

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General Concepts: Stroke Mechanisms, Subtyping, and Workup

Jun 14, 2017 by in NEUROLOGY Comments Off on General Concepts: Stroke Mechanisms, Subtyping, and Workup

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…

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Subclinical Vascular Brain Injury

Jun 14, 2017 by in NEUROLOGY Comments Off on Subclinical Vascular Brain Injury

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…

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Secondary Prevention After Cardioembolic Stroke

Jun 14, 2017 by in NEUROLOGY Comments Off on Secondary Prevention After Cardioembolic Stroke

Fig. 12.1 Valve prostheses. Different prosthetic heart valves. Bioprosthetic valve (top left). Prosthetic bileaflet (top middle and bottom left). Ball in cage prosthesis (middle right). Annuloplasty ring (bottom right). By…

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