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

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

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

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.

scholarly journals Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson’s Disease Patients

2015 ◽  
pp. 117-121 ◽  
Author(s):  
Andres Felipe Duque ◽  
Juan Carlos Lopez ◽  
Helena Hernandez ◽  
Bruno Benitez ◽  
Juan Jose Yunis ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson Disease ◽  
Latin American ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Causal Factor ◽  
Leucine Rich Repeat ◽  
Common Cause ◽  
Asymptomatic Control ◽  
Normal Controls

Introduction: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s disease, but the prevalence of these mutations varies among populations. Objective: to analysed the frequency of the LRRK2 p.G2019S mutation (c.6055G>A transition) in a sample of Colombian patients. Materials and Methods: In the present study we have analysed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or sporadic Parkinson Disease, including early and late onset patients, and 162 normal controls. Results: Our results show occurrence of this mutation in two cases (2/154, 1.3%) with classical Parkinson´s signs, and one completely asymptomatic control (1/162, 0.6%). Conclusion: The p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations.

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene

2006 ◽  
Vol 108 (8) ◽  
pp. 784-786 ◽  
Author(s):  
Hirokazu Furuya ◽  
Hiroyuki Murai ◽  
Kazuo Takasugi ◽  
Yasumasa Ohyagi ◽  
Fumi Urano ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Novel Mutation ◽  
Gch1 Gene ◽  
Segawa Syndrome

O3-04-03: Age-Related Neuropathology Helps Distinguish Autosomal Dominant from Late-Onset Alzheimer's Disease

2016 ◽  
Vol 12 ◽  
pp. P291-P292
Author(s):  
Nigel J. Cairns ◽  
Richard J. Perrin ◽  
Erin E. Franklin ◽  
Benjamin D. Vincent ◽  
Michael Baxter ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Age Related
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