scholarly journals Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in theRDSGene

2003 ◽  
Vol 44 (8) ◽  
pp. 3570 ◽  
Author(s):  
Shahrokh C. Khani ◽  
Athanasios J. Karoukis ◽  
Joyce E. Young ◽  
Rajesh Ambasudhan ◽  
Tracy Burch ◽  
...  
Keyword(s):  
Choroidal Neovascularization ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Macular Dystrophy

Late onset autosomal dominant hypophosphatemic rickets; confirmation of the diagnosis with genomic analysis

2013 ◽  
Author(s):  
Symeon Tournis ◽  
Ioannis Stathopoulos ◽  
Kalliopi Lampropoulou-Adamidou ◽  
Theodora Koromila ◽  
Nikolaos Chatzistamatas ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Genomic Analysis ◽  
Hypophosphatemic Rickets ◽  
Autosomal Dominant Hypophosphatemic Rickets

scholarly journals A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

2006 ◽  
Vol 43 (12) ◽  
pp. e57-e57 ◽  
Author(s):  
Z Yang ◽  
G Kitsos ◽  
Z Tong ◽  
M Payne ◽  
S Gorezis ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Macular Dystrophy

Different rates of cognitive decline in autosomal dominant and late‐onset Alzheimer disease

2021 ◽  
Author(s):  
Virginia D. Buckles ◽  
Chengjie Xiong ◽  
Randall J. Bateman ◽  
Jason Hassenstab ◽  
Ricardo Allegri ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Cognitive Decline ◽  
Autosomal Dominant ◽  
Late Onset

P2-436: PIB-PET NEUROIMAGING CORRELATES WITH β-AMYLOIDOSIS IN BOTH LATE-ONSET AND AUTOSOMAL DOMINANT ALZHEIMER DISEASE

2006 ◽  
Vol 14 (7S_Part_16) ◽  
pp. P881-P881
Author(s):  
Namita Sinha ◽  
Aihong Zhou ◽  
Chengjie Xiong ◽  
John C. Morris ◽  
Randall J. Bateman ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Autosomal Dominant ◽  
Late Onset

An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4

2003 ◽  
Vol 44 (4) ◽  
pp. 1657 ◽  
Author(s):  
Michel Michaelides ◽  
Samantha Johnson ◽  
Arabella Poulson ◽  
Keith Bradshaw ◽  
Caren Bellmann ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Macular Dystrophy ◽  
Chromosome 4 ◽  
Bull's Eye

Clinical Spectrum in Autosomal Dominant Stargardt’s Macular Dystrophy with a Mutation in ELOVL4 Gene

2001 ◽  
pp. 1-9
Author(s):  
Yang Li ◽  
Linda A. Lam ◽  
Zhengya Yu ◽  
Zhenglin Yang ◽  
Paul Bither ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Spectrum ◽  
Macular Dystrophy

Autosomal Dominant Late-Onset Leukoencephalopathy

1997 ◽  
Vol 37 (1) ◽  
pp. 53-61 ◽  
Author(s):  
G. Quattrocolo ◽  
S. Leombruni ◽  
G. Vaula ◽  
M. Bergui ◽  
A. Riva ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset

scholarly journals The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease

2021 ◽  
Vol 10 (19) ◽  
pp. 4582
Author(s):  
Tanzil Rujeedawa ◽  
Eva Carrillo Félez ◽  
Isabel C. H. Clare ◽  
Juan Fortea ◽  
Andre Strydom ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Prodromal Phase ◽  
Phenotypic Differences ◽  
Autosomal Dominant Alzheimer’S Disease ◽  
Neurological Features

The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer’s disease: Down syndrome-associated Alzheimer’s disease in (DSAD) and Autosomal Dominant Alzheimer’s disease (ADAD) are compared with the late-onset form of the disease (LOAD). DSAD and ADAD present in a younger population and are more likely to manifest with non-amnestic (such as dysexecutive function features) in the prodromal phase or neurological features (such as seizures and paralysis) especially in ADAD. The very large variety of mutations associated with ADAD explains the wider range of phenotypes. In the LOAD, age-associated comorbidities explain many of the phenotypic differences.

scholarly journals AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia

2017 ◽  
Vol 5 (S2) ◽  
pp. AB065-AB065
Author(s):  
Nurin Aisyiyah Listyasari ◽  
Nydia Rena Benita Sihombing ◽  
Tri Indah Winarni ◽  
Maria Belladona ◽  
Sultana MH Faradz
Keyword(s):  
Genetic Testing ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Testing And Counseling ◽  
Autosomal Dominant Spinocerebellar Ataxia

scholarly journals Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

2009 ◽  
Vol 36 (4) ◽  
pp. 409-428 ◽  
Author(s):  
Josef Finsterer
Keyword(s):  
Ataxia Telangiectasia ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Fragile X ◽  
Axonal Neuropathy ◽  
Friedreich Ataxia ◽  
Point Mutations ◽  
Spinocerebellar Ataxias

Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). Only two of the heredoataxias, fragile X/tremor/ataxia syndrome, and XLSA/A are transmitted via an X-linked trait. Maternally inherited heredoataxias are due to point mutations in genes encoding for tRNAs, rRNAs, respiratory chain subunits or single large scale deletions/duplications of the mitochondrial DNA and include MELAS, MERRF, KSS, PS, MILS, NARP, and non-syndromic mitochondrial disorders. Treatment of heredoataxias is symptomatic and supportive and may have a beneficial effect in single patients.**Please see page 424 for abbreviation list.

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