Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

Gabriele Siciliano, Bruno Rossi, Antonio Martini, Corrado Angelini, Andrea Martinuzzi, Raffaele Lodi, Paolo Zaniol, Bruno Barbiroli, Alberto Muratorio

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

We report here a glycogen storage myopathy type V associated with multifocal encephalopathy. The patient, a 43-year-old male with increased serum CK, a heavy drinker and smoker, had been affected by generalized epilepsy since age 24, after a cranial injury. He had had a right hemiparesis 2 years before coming to our observation and a transient left hemiparesis the following year. CT and MRI of the brain showed multiple hemispheric lesions consistent with an ischemic process, as suggested by single photon emission tomography of the brain. Muscle biopsy showed a vacuolar myopathy, and myophosphorylase activity was 13% of the normal mean. Phosphorus magnetic resonance spectroscopy (31P-MRS) performed on resting calf muscles showed increased PCr to ATP and decreased PCr to Pi ratios. During both aerobic and ischemic exercise 31P-MRS failed to show any cytosolic acidification and phosphomonoesters (PME) accumulation, two MRS findings in agreement with McArdle's syndrome diagnosis. Mitochondrial respiration was also affected as shown by a low PCr to Pi ratio at rest and by a low rate of PCr re-synthesis during recovery from aerobic exercise. This latter finding in McArdle's disease can be explained by decreased mitochondrial substrate availability, which in turn can contribute to the phenotypic manifestations of the disease.

Original languageEnglish
Pages (from-to)84-91
Number of pages8
JournalJournal of the Neurological Sciences
Volume128
Issue number1
DOIs
Publication statusPublished - 1995

Fingerprint

Glycogen Storage Disease Type V
Brain Diseases
Paresis
Muscle Form Glycogen Phosphorylase
Respiration
Magnetic Resonance Spectroscopy
Exercise
Generalized Epilepsy
Muscles
Brain
Muscular Diseases
Glycogen
Photons
Phosphorus
Adenosine Triphosphate
Tomography
Observation
Biopsy
Wounds and Injuries
Serum

Keywords

  • Encephalomalacia
  • Energy metabolism
  • Glycogen storage disease, type V
  • Glycolysis
  • McArdle's disease
  • Nuclear magnetic resonance spectroscopy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Ageing
  • Surgery
  • Developmental Neuroscience
  • Neuroscience(all)

Cite this

Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy. / Siciliano, Gabriele; Rossi, Bruno; Martini, Antonio; Angelini, Corrado; Martinuzzi, Andrea; Lodi, Raffaele; Zaniol, Paolo; Barbiroli, Bruno; Muratorio, Alberto.

In: Journal of the Neurological Sciences, Vol. 128, No. 1, 1995, p. 84-91.

Research output: Contribution to journalArticle

Siciliano, Gabriele ; Rossi, Bruno ; Martini, Antonio ; Angelini, Corrado ; Martinuzzi, Andrea ; Lodi, Raffaele ; Zaniol, Paolo ; Barbiroli, Bruno ; Muratorio, Alberto. / Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy. In: Journal of the Neurological Sciences. 1995 ; Vol. 128, No. 1. pp. 84-91.
@article{397c7fd99ddf45bda6bc7d91fec7d9b0,
title = "Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy",
abstract = "We report here a glycogen storage myopathy type V associated with multifocal encephalopathy. The patient, a 43-year-old male with increased serum CK, a heavy drinker and smoker, had been affected by generalized epilepsy since age 24, after a cranial injury. He had had a right hemiparesis 2 years before coming to our observation and a transient left hemiparesis the following year. CT and MRI of the brain showed multiple hemispheric lesions consistent with an ischemic process, as suggested by single photon emission tomography of the brain. Muscle biopsy showed a vacuolar myopathy, and myophosphorylase activity was 13{\%} of the normal mean. Phosphorus magnetic resonance spectroscopy (31P-MRS) performed on resting calf muscles showed increased PCr to ATP and decreased PCr to Pi ratios. During both aerobic and ischemic exercise 31P-MRS failed to show any cytosolic acidification and phosphomonoesters (PME) accumulation, two MRS findings in agreement with McArdle's syndrome diagnosis. Mitochondrial respiration was also affected as shown by a low PCr to Pi ratio at rest and by a low rate of PCr re-synthesis during recovery from aerobic exercise. This latter finding in McArdle's disease can be explained by decreased mitochondrial substrate availability, which in turn can contribute to the phenotypic manifestations of the disease.",
keywords = "Encephalomalacia, Energy metabolism, Glycogen storage disease, type V, Glycolysis, McArdle's disease, Nuclear magnetic resonance spectroscopy",
author = "Gabriele Siciliano and Bruno Rossi and Antonio Martini and Corrado Angelini and Andrea Martinuzzi and Raffaele Lodi and Paolo Zaniol and Bruno Barbiroli and Alberto Muratorio",
year = "1995",
doi = "10.1016/0022-510X(94)00207-5",
language = "English",
volume = "128",
pages = "84--91",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1",

}

TY - JOUR

T1 - Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

AU - Siciliano, Gabriele

AU - Rossi, Bruno

AU - Martini, Antonio

AU - Angelini, Corrado

AU - Martinuzzi, Andrea

AU - Lodi, Raffaele

AU - Zaniol, Paolo

AU - Barbiroli, Bruno

AU - Muratorio, Alberto

PY - 1995

Y1 - 1995

N2 - We report here a glycogen storage myopathy type V associated with multifocal encephalopathy. The patient, a 43-year-old male with increased serum CK, a heavy drinker and smoker, had been affected by generalized epilepsy since age 24, after a cranial injury. He had had a right hemiparesis 2 years before coming to our observation and a transient left hemiparesis the following year. CT and MRI of the brain showed multiple hemispheric lesions consistent with an ischemic process, as suggested by single photon emission tomography of the brain. Muscle biopsy showed a vacuolar myopathy, and myophosphorylase activity was 13% of the normal mean. Phosphorus magnetic resonance spectroscopy (31P-MRS) performed on resting calf muscles showed increased PCr to ATP and decreased PCr to Pi ratios. During both aerobic and ischemic exercise 31P-MRS failed to show any cytosolic acidification and phosphomonoesters (PME) accumulation, two MRS findings in agreement with McArdle's syndrome diagnosis. Mitochondrial respiration was also affected as shown by a low PCr to Pi ratio at rest and by a low rate of PCr re-synthesis during recovery from aerobic exercise. This latter finding in McArdle's disease can be explained by decreased mitochondrial substrate availability, which in turn can contribute to the phenotypic manifestations of the disease.

AB - We report here a glycogen storage myopathy type V associated with multifocal encephalopathy. The patient, a 43-year-old male with increased serum CK, a heavy drinker and smoker, had been affected by generalized epilepsy since age 24, after a cranial injury. He had had a right hemiparesis 2 years before coming to our observation and a transient left hemiparesis the following year. CT and MRI of the brain showed multiple hemispheric lesions consistent with an ischemic process, as suggested by single photon emission tomography of the brain. Muscle biopsy showed a vacuolar myopathy, and myophosphorylase activity was 13% of the normal mean. Phosphorus magnetic resonance spectroscopy (31P-MRS) performed on resting calf muscles showed increased PCr to ATP and decreased PCr to Pi ratios. During both aerobic and ischemic exercise 31P-MRS failed to show any cytosolic acidification and phosphomonoesters (PME) accumulation, two MRS findings in agreement with McArdle's syndrome diagnosis. Mitochondrial respiration was also affected as shown by a low PCr to Pi ratio at rest and by a low rate of PCr re-synthesis during recovery from aerobic exercise. This latter finding in McArdle's disease can be explained by decreased mitochondrial substrate availability, which in turn can contribute to the phenotypic manifestations of the disease.

KW - Encephalomalacia

KW - Energy metabolism

KW - Glycogen storage disease, type V

KW - Glycolysis

KW - McArdle's disease

KW - Nuclear magnetic resonance spectroscopy

UR - http://www.scopus.com/inward/record.url?scp=0028888573&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028888573&partnerID=8YFLogxK

U2 - 10.1016/0022-510X(94)00207-5

DO - 10.1016/0022-510X(94)00207-5

M3 - Article

VL - 128

SP - 84

EP - 91

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1

ER -