scholarly journals Is the brain involved in patients with late‐onset Pompe disease?

2021 ◽  
Author(s):  
Jan J A Dorpel ◽  
Willemijn M.C. Vlugt ◽  
Marjolein H.G. Dremmen ◽  
Ryan Muetzel ◽  
Esther Berg ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
The Brain

scholarly journals Late-onset Pompe disease manifests in the brain

2019 ◽  
Vol 20 ◽  
pp. 100488
Author(s):  
Josef Finsterer
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
The Brain

scholarly journals Response: Late-onset Pompe disease manifests in the brain

2019 ◽  
Vol 21 ◽  
pp. 100516
Author(s):  
Ilka Schneider ◽  
Ole Hensel ◽  
Stephan Zierz
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
The Brain

scholarly journals Novel approaches to quantify CNS involvement in children with Pompe disease

Neurology ◽  
2020 ◽  
Vol 95 (6) ◽  
pp. e718-e732 ◽  
Author(s):  
Aditi Korlimarla ◽  
Gail A. Spiridigliozzi ◽  
Kelly Crisp ◽  
Mrudu Herbert ◽  
Steven Chen ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Brain Mri ◽  
Receptive Vocabulary ◽  
Cns Involvement ◽  
Enzyme Replacement ◽  
Novel Approach ◽  
Infantile Pompe Disease ◽  
The Brain ◽  
Developmental Assessments

ObjectiveTo characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.MethodsThe study included 14 children (ages 6–18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Pompe disease (LOPD) (n = 2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach: the individual FS scores from 10 anatomical areas were summed to yield a total FS score (range absent [0] to severe [30]) for each child. The FS scores were compared to developmental assessments of cognition and language obtained during the same time period.ResultsMild to severe WM hyperintense foci were seen in 10/12 children with IPD (median age 10.6 years) with total FS scores ranging from 2 to 23. Periventricular, subcortical, and deep WM were involved. WM hyperintense foci were seen throughout the path of the corticospinal tracts in the brain in children with IPD. Two children with IPD had no WM hyperintense foci. Children with IPD had relative weaknesses in processing speed, fluid reasoning, visual perception, and receptive vocabulary. The 2 children with LOPD had no WM hyperintense foci, and high scores on most developmental assessments.ConclusionThis study systematically characterized WM hyperintense foci in children with IPD, which could serve as a benchmark for longitudinal follow-up of WM abnormalities in patients with Pompe disease and other known neurodegenerative disorders or leukodystrophies in children.

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

2021 ◽  
Author(s):  
Ratna Dua Puri ◽  
Nitika Setia ◽  
Vinu N ◽  
Sujatha Jagadeesh ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)

2021 ◽  
Vol 132 (2) ◽  
pp. S34
Author(s):  
Mazen M. Dimachkie ◽  
Richard J. Barohn ◽  
Barry Byrne ◽  
Ozlem Goker-Alpan ◽  
Priya S. Kishnani ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

DILATIVE VASCULOPATHY AND CEREBRAL HAEMORRHAGE AS A PRESENTATION OF LATE–ONSET POMPE DISEASE

2013 ◽  
Vol 84 (11) ◽  
pp. e2.197-e2 ◽  
Author(s):  
James Lilleker ◽  
Mark Roberts ◽  
Bernard Boothman
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Cerebral Haemorrhage

scholarly journals Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021 ◽  
Vol 22 (7) ◽  
pp. 3625
Author(s):  
Filomena Napolitano ◽  
Giorgia Bruno ◽  
Chiara Terracciano ◽  
Giuseppina Franzese ◽  
Nicole Piera Palomba ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Respiratory Muscles ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Enzyme Replacement ◽  
Whole Exome ◽  
Clinical Pictures

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation

2011 ◽  
Vol 44 (6) ◽  
pp. 897-901 ◽  
Author(s):  
Alberto Dubrovsky ◽  
Jose Corderi ◽  
Min Lin ◽  
Priya S. Kishnani ◽  
Harrison N. Jones
Keyword(s):  
Pompe Disease ◽  
Clinical Observation ◽  
Late Onset
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