Journal ArticleDOI
Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype
Marian A. Kroos,Robert J. Pomponio,M.L.C. Hagemans,J. L. M. Keulemans,Maureen G. Phipps,M. DeRiso,Rachel Palmer,M.G.E.M. Ausems,N.A.M.E. van der Beek,O. P. van Diggelen,D. J. J. Halley,A.T. van der Ploeg,Arnold J. J. Reuser +12 more
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TLDR
Patients with the same c.-32-13T→G haplotype may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation.Abstract:
Background: Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by acid α-glucosidase deficiency due to mutations in the GAA gene. Progressive skeletal muscle weakness affects motor and respiratory functions and is typical for all forms of Pompe disease. Cardiac hypertrophy is an additional fatal symptom in the classic infantile subtype. c.-32-13T→G is the most common mutation in adults. Objective: To delineate the disease variation among patients with this mutation and to define the c.-32-13T→G haplotypes in search for genotype–phenotype correlations. Methods: We studied 98 compound heterozygotes with a fully deleterious mutation (11 novel mutations are described) and the common c.-32-13T→G mutation. Results: All patients were Caucasian. None had the classic infantile form of Pompe disease. The clinical course varied far more than anticipated (age at diagnosis GAA gene. In 76% of the cases, c.-32-13T→G was encountered in the second most common GAA core haplotype (DHRGEVVT). In only one case was c.-32-13T→G encountered in the major GAA core haplotype (DRHGEIVT). Conclusion: Patients with the same c.-32-13T→G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation.read more
Citations
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Journal ArticleDOI
Pompe's disease.
TL;DR: The developments that led to the approval of enzyme replacement therapy with recombinant human alpha-glucosidase from Chinese hamster ovary cells by the US Food and Drug Administration and European Medicines Agency in 2006 are discussed and clinical practice is reviewed.
Journal ArticleDOI
Neuropathological changes in essential tremor: 33 cases compared with 21 controls
Elan D. Louis,Phyllis L. Faust,Jean Paul G. Vonsattel,Lawrence S. Honig,Alex Rajput,Christopher A. Robinson,Ali H. Rajput,Rajesh Pahwa,Kelly E. Lyons,G. Webster Ross,Sarah Borden,Carol Moskowitz,Arlene Lawton,Nora Hernandez +13 more
TL;DR: Several trends were observed in ET cases without Lewy bodies, including a younger age of onset of tremor and higher proportions with gait difficulty and family history of ET, and the pathological changes of ET seem to be heterogeneous and degenerative.
Journal ArticleDOI
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
Marc Nicolino,Barry J. Byrne,James E. Wraith,Nancy D. Leslie,Hanna Mandel,David R. Freyer,Georgianne L. Arnold,Eniko K. Pivnick,C. J. Ottinger,Peter H. Robinson,John Charles A Loo,Martin Smitka,Philip Jardine,Luciano Tatò,Brigitte Chabrol,Shawn E. McCandless,Shigemi Kimura,L. Mehta,Deeksha Bali,Alison Skrinar,Claire Morgan,Lakshmi Rangachari,Deya Corzo,Priya S. Kishnani +23 more
TL;DR: In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival and improved indices of cardiomyopathy, motor skills, and functional independence.
Journal ArticleDOI
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
TL;DR: These guidelines serve as an educational resource for confirmatory testing and subsequent clinical management of presymptomatic indivduals suspected to have a lysosomal storage disease and help to define a research agenda for longitudinal studies such as the American College of Medical Genetics/National Institutes of Health Newborn Screening Translational Research Network.
Journal ArticleDOI
The emerging neuropathology of essential tremor
TL;DR: Postmortem studies have begun to display some of the underlying brain changes in patients with essential tremor, which are likely to lead the way to additional insights into the pathophysiology of ET and guide the development of therapies for this common movement disorder.
References
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Journal ArticleDOI
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
Hannerieke Van den Hout,Wim C. J. Hop,Otto P. van Diggelen,Jan A.M. Smeitink,G. Peter A. Smit,B. T. Poll-The,Henk D. Bakker,M Christa B Loonen,Johannis B.C. de Klerk,Arnold J. J. Reuser,Ans T. van der Ploeg +10 more
TL;DR: Survivity, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe's disease.
Journal ArticleDOI
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
M.L.C. Hagemans,Leon P. F. Winkel,P.A. van Doorn,W. J. C. Hop,M. C. B. Loonen,A. J. J. Reuser,A.T. van der Ploeg +6 more
TL;DR: It is concluded that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis and the follow-up of patients with late-onset Pompe's disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.
Journal ArticleDOI
The natural course of non-classic Pompe's disease; a review of 225 published cases.
Leon P. F. Winkel,M.L.C. Hagemans,Pieter A. van Doorn,M Christa B Loonen,Wim J C Hop,Arnold J. J. Reuser,Ans T. van der Ploeg +6 more
TL;DR: The natural course of cases not fitting the definition of classic infantile Pompe’s disease, a review of 109 reports including 225 cases shows a continuous spectrum of phenotypes, with patients with a later onset of symptoms seemed to have a better prognosis.
Journal ArticleDOI
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
M.G.E.M. Ausems,J Verbiest,J Verbiest,Mmp Hermans,Mmp Hermans,Marian A. Kroos,Frits A. Beemer,Jhj Wokke,Lodewijk A. Sandkuijl,Lodewijk A. Sandkuijl,A.J.J. Reuser,A.T. van der Ploeg +11 more
TL;DR: The predicted frequency of Glycogen storage disease type II is about two to four times higher than previously suggested, which is a reason to become more familiar with the presentation of GSD II in its different clinical forms and to adjust the risk assessment for genetic counselling.
Journal ArticleDOI
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Pascal Laforêt,Marc Nicolino,Bruno Eymard,J.-P. Puech,Catherine Caillaud,L. Poenaru,Michel Fardeau +6 more
TL;DR: Although onset of progressive muscle weakness occurred during adulthood in all cases but one, presence of mild, nonprogressive muscular symptoms appearing during childhood was detected in 16 patients, and the absence of genotype–phenotype correlation suggests a complex physiopathology that requires further investigations.
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