Pompe's disease: An inborn lysosomal disorder with storage of glycogen

Martin, Juliette; Barsy, Thierry de; Hoof, F. Van; Palladini, Giovanni

doi:10.1007/bf00687878

Cited by 117 publications

(99 citation statements)

References 40 publications

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“…Several early and also more recent studies (Burrow et al 2010;Chen et al 2004;Crome et al 1963;Engel et al 1973;Gambetti et al 1971;Lee et al 1996;Mancall et al 1965;Martin et al 1973) point to abnormalities in the CNS and PNS, leading to a slowly progressive neurodegenerative process. Chien et al reported myelination delay on MRI in five patients started on ERT later than 5.5 months of age (Chien et al 2006).…”

Section: Discussionmentioning

confidence: 99%

“…The phenotype of Pompe disease is heterogeneous and primarily characterized by accumulation of glycogen in skeletal and cardiac muscle associated with progressive skeletal muscle weakness in all variants of the disease and by rapidly progressive hypertrophic cardiomyopathy and early death at about the age of 1 year in patients with the severe infantile variant (Hirschhorn and Reuser 2001;Kishnani and Howell 2004;Kishnani et al 2006a). Glycogen accumulation, however, has also been well documented in central (CNS) and peripheral (PNS) nervous systems (Gambetti et al 1971;Mancall et al 1965;Martin et al 1973;Sakurai et al 1974), also leading to cochlear dysfunction with subsequent hearing loss . In patients with clinical symptoms suggestive for Pompe disease, diagnosis is based on marked reduction of GAA activity in purified peripheral blood lymphocytes (Winchester et al 2008).…”

Section: Introductionmentioning

confidence: 99%

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CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

Rohrbach

Klein

Köhli-Wiesner

et al. 2010

J of Inher Metab Disea

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Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid !-glucosidase enzyme (GAA) and caused by mutations in the GAA gene. Infantile-type Pompe disease is a multiorgan disorder presenting with cardiomyopathy, hypotonia, and muscular weakness, which is usually fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) has recently been shown to be effective and subsequently yielded promising results in cross-reactive immunologic material (CRIM)-positive patients. CRIM-negative patients showed a limited response to ERT and died or were ventilator dependant. Over a period of 44 months, we monitored cognitive and motor development, behavior, auditory function, and brain imaging of a CRIM-negative infantile Pompe disease patient on rhGAA and monoclonal anti-immunoglobulin E (anti-IgE) antibody (omalizumab) treatment due to severe allergic reaction. Cardiorespiratory and skeletal muscle response was significant, with almost normal motor development. Cognitive development-in particular, speech and language-deviated increasingly from normal age-appropriate development and was markedly delayed at 44 months, unexplained by moderate sensorineural hearing impairment. Brain magnetic resonance imaging (MRI) at 18, 30, and 44 months of age revealed symmetrical signal alteration of the deep white matter. Titer values of IgG antibodies to rhGAA always remained <1:800. The potential role of omalizumab in immune modulation remains to be

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

Rohrbach

Klein

Köhli-Wiesner

et al. 2010

J of Inher Metab Disea

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“…This deficiency results in cellular lysosomal and cytoplasmic glycogen accumulation (Byrne et al, 2011a). Myopathy is a hallmark of this disease, but a growing database indicates that motor failure in Pompe disease also involves CNS pathology (Hogan et al, 1969;Martin et al, 1973;Matsui et al, 1983;Teng et al, 2004;Sidman et al, 2008;DeRuisseau et al, 2009;Burrow et al, 2010;Mah et al, 2010). However, the current clinical strategy of intravenous infusion of recombinant GAA (Beck, 2009;Byrne et al, 2011b) will not mitigate CNS glycogen accumulation (DeRuisseau et al, 2009;Lee et al, 2011;Qiu et al, 2012).…”

Section: Pompe Disease and Aav9mentioning

confidence: 99%

Retrograde Gene Delivery to Hypoglossal Motoneurons Using Adeno-Associated Virus Serotype 9

ElMallah

Falk

Lane

et al. 2012

Human Gene Therapy Methods

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Retrograde viral transport (i.e., muscle to motoneuron) enables targeted gene delivery to specific motor pools. Recombinant adeno-associated virus serotype 9 (AAV9) robustly infects motoneurons, but the retrograde transport capabilities of AAV9 have not been systematically evaluated. Accordingly, we evaluated the retrograde transduction efficiency of AAV9 after direct tongue injection in 129SVE mice as well as a mouse model that displays neuromuscular pathology (Gaa -/ -). Hypoglossal (XII) motoneurons were histologically evaluated 8 weeks after tongue injection with AAV9 encoding green fluorescent protein (GFP) with expression driven by the chicken b-actin promoter (1 · 10 11 vector genomes). On average, GFP expression was detected in 234 -43 XII motoneurons 8 weeks after AAV9-GFP tongue injection. In contrast, tongue injection with a highly efficient retrograde anatomical tracer (cholera toxin b subunit, CT-b) resulted in infection of 818 -88 XII motoneurons per mouse. The retrograde transduction efficiency of AAV9 was similar between the 129SVE mice and those with neuromuscular disease (Gaa -/ -). Routine hematoxylin and eosin staining and cluster of differentiation (CD) immunostaining for T cells (CD3) indicated no persistent inflammation within the tongue or XII nucleus after AAV9 injection. Additional experiments indicated no adverse effects of AAV9 on the pattern of breathing. We conclude that AAV9 can retrogradely infect a significant portion of a given motoneuron pool in normal and dystrophic mice, and that its transduction efficiency is approximately 30% of what can be achieved with CT-b.

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“…However, a few Pompe case reports have demonstrated CNS glycogen accumulation (9)(10)(11)(12)(13)(14) and absent or diminished deep tendon reflexes (15,16). In particular, spinal motoneurons seem to be susceptible to excessive glycogen accumulation (10,13,15).…”

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confidence: 99%

Neural deficits contribute to respiratory insufficiency in Pompe disease

DeRuisseau¹,

Fuller

Qiu

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

168

312

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Pompe disease is a severe form of muscular dystrophy due to glycogen accumulation in all tissues, especially striated muscle. Disease severity is directly related to the deficiency of acid ␣-glucosidase (GAA), which degrades glycogen in the lysosome. Respiratory dysfunction is a hallmark of the disease, muscle weakness has been viewed as the underlying cause, and the possibility of an associated neural contribution has not been evaluated previously. Therefore, we examined behavioral and neurophysiological aspects of breathing in 2 animal models of Pompe disease-the Gaa ؊/؊ mouse and a transgenic line (MTP) expressing GAA only in skeletal muscle, as well as a detailed analysis of the CNS in a Pompe disease patient. Glycogen content was elevated in the Gaa ؊/؊ mouse cervical spinal cord. Retrograde labeling of phrenic motoneurons showed significantly greater soma size in Gaa ؊/؊ mice vs. isogenic controls, and glycogen was observed in Gaa ؊/؊ phrenic motoneurons. Ventilation, assessed via plethysmography, was attenuated during quiet breathing and hypercapnic challenge in Gaa ؊/؊ mice (6 to >21 months of age) vs. controls. We confirmed that MTP mice had normal diaphragmatic contractile properties; however, MTP mice had ventilation similar to the Gaa ؊/؊ mice during quiet breathing. Neurophysiological recordings indicated that efferent phrenic nerve inspiratory burst amplitudes were substantially lower in Gaa ؊/؊ and MTP mice vs. controls. In human samples, we demonstrated similar pathology in the cervical spinal cord and greater accumulation of glycogen in spinal cord compared with brain. We conclude that neural output to the diaphragm is deficient in Gaa ؊/؊ mice, and therapies targeting muscle alone may be ineffective in Pompe disease.glycogenosis ͉ motor neuron ͉ muscular dystrophy ͉ myopathy

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Pompe's disease: An inborn lysosomal disorder with storage of glycogen

Cited by 117 publications

References 40 publications

CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

Retrograde Gene Delivery to Hypoglossal Motoneurons Using Adeno-Associated Virus Serotype 9

Neural deficits contribute to respiratory insufficiency in Pompe disease

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