scholarly journals Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Brain ◽  
2010 ◽  
Vol 133 (7) ◽  
pp. 2123-2135 ◽  
Author(s):  
Sebahattin Cirak ◽  
Florian von Deimling ◽  
Shrikesh Sachdev ◽  
Wesley J. Errington ◽  
Ralf Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

O7-4 Kelch-like homolog 9 (KLHL9) mutation is associated with an early onset autosomal dominant distal myopathy

2009 ◽  
Vol 13 ◽  
pp. S16
Author(s):  
S. Cirak ◽  
F.V. Deimling ◽  
S. Sachdev ◽  
W.J. Errington ◽  
R. Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

Laing early-onset distal myopathy in a Belgian family

2014 ◽  
Vol 114 (4) ◽  
pp. 253-256 ◽  
Author(s):  
P. Y. K. Van den Bergh ◽  
J. J. Martin ◽  
F. Lecouvet ◽  
B. Udd ◽  
E. Schmedding
Keyword(s):  
Early Onset ◽  
Distal Myopathy

scholarly journals Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

2018 ◽  
Vol 39 (8) ◽  
pp. 1076-1080 ◽  
Author(s):  
Lyse Ruaud ◽  
Gillian I. Rice ◽  
Christelle Cabrol ◽  
Juliette Piard ◽  
Mathieu Rodero ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Spastic Paraparesis ◽  
Gain Of Function ◽  
Brain Calcification

scholarly journals Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease

2016 ◽  
Vol 44 (3) ◽  
pp. 171-178 ◽  
Author(s):  
Kristen L. Nowak ◽  
Melissa A. Cadnapaphornchai ◽  
Michel B. Chonchol ◽  
Robert W. Schrier ◽  
Berenice Gitomer
Keyword(s):  
Kidney Disease ◽  
Clinical Outcomes ◽  
Polycystic Kidney Disease ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Glomerular Hyperfiltration ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Background: Long-term clinical outcomes in children with very-early onset (VEO; diagnosis in utero or within the first 18 months of life) autosomal dominant polycystic kidney disease (ADPKD) are currently not well understood. We conducted a longitudinal retrospective cohort study to assess the association between VEO status and adverse clinical outcomes. Methods: Seventy patients with VEO-ADPKD matched (by year of birth, sex and race/ethnicity) to 70 patients with non-VEO-ADPKD who participated in research at the University of Colorado were studied. Kaplan-Meier survival analysis was performed. The predictor was VEO status, and outcomes were progression to end-stage renal disease (ESRD), development of hypertension, progression to estimated glomerular filtration rate (eGFR <90 ml/min/1.73 m2), glomerular hyperfiltration (eGFR ≥140 ml/min/1.73 m2) and height-adjusted total kidney volume (htTKV) measured by MRI ≥600 ml/m. Results: Median follow-up was until 16.0 years of age. There were only 4 ESRD events during the follow-up period, all in the VEO group (p < 0.05). VEO patients were more likely to develop hypertension (hazard ratio, HR 3.15, 95% CI 1.86-5.34; p < 0.0001) and to progress to eGFR <90 ml/min/1.73 m2 (HR 1.97, 95% CI 1.01-3.84; p < 0.05) than non-VEO patients. There was no difference between groups in the development of glomerular hyperfiltration (HR 0.89, 95% CI 0.56-1.42; p = 0.62). There were only 7 patients who progressed to htTKV ≥600 ml/m, 4 in the VEO group and 3 in the non-VEO group (p < 0.01). Conclusions: Several clinical outcomes are worse in patients with VEO-ADPKD compared to non-VEO ADPKD. Children with VEO-ADPKD represent a particularly high-risk group of ADPKD patients.

scholarly journals Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

1998 ◽  
Vol 63 (6) ◽  
pp. 1732-1742 ◽  
Author(s):  
Howard Feit ◽  
Alice Silbergleit ◽  
Lori B. Schneider ◽  
Jorge A. Gutierrez ◽  
Reine-Paule Fitoussi ◽  
...  
Keyword(s):  
Vocal Cord ◽  
Autosomal Dominant ◽  
Gene Localization ◽  
Distal Myopathy ◽  
Clinical Description

scholarly journals High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

2012 ◽  
Vol 17 (9) ◽  
pp. 875-879 ◽  
Author(s):  
C Pottier ◽  
◽  
D Hannequin ◽  
S Coutant ◽  
A Rovelet-Lecrux ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
High Frequency ◽  
Early Onset ◽  
Autosomal Dominant
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