Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

F. Mochel, R. Schiffmann, M.E. Steenweg, H.O. Akman, M. Wallace, F. Sedel, P. Laforet, R Levy, J.M. Powers, S. Demeret, T. Maisonobe, R. Froissart, B.B. Da Nobrega, B.L. Fogel, M.R. Natowicz, C. Lubetzki, A. Durr, A. Brice, H. Rosenmann, V. Barash & 4 others O. Kakhlon, J.M. Gomori, M.S. van der Knaap, A. Lossos

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD. Methods: We gathered clinical, biochemical, and molecular findings in 50 APBD patients with GBE deficiency from Israel, the United States, France, and the Netherlands. Brain and spine magnetic resonance images were reviewed in 44 patients. Results: The most common clinical findings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal neuropathy (90%). The median age was 51 years for the onset of neurogenic bladder symptoms, 63 years for wheelchair dependence, and 70 years for death. As the disease progressed, mild cognitive decline may have affected up to half of the patients. Neuroimaging showed hyperintense white matter abnormalities on T2 and fluid attenuated inversion recovery sequences predominantly in the periventricular regions, the posterior limb of the internal capsule, the external capsule, and the pyramidal tracts and medial lemniscus of the pons and medulla. Atrophy of the medulla and spine was universal. p.Y329S was the most common GBE1 mutation, present as a single heterozygous (28%) or homozygous (48%) mutation. Interpretation: APBD with GBE deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. ANN NEUROL 2012;72:433-441. Copyright © 2012 American Neurological Association.
    Original languageEnglish
    Pages (from-to)433-441
    JournalAnnals of Neurology
    Volume72
    Issue number3
    DOIs
    Publication statusPublished - 2012

    Fingerprint

    Glycogen Storage Disease Type IV
    Natural History
    Neurogenic Urinary Bladder
    Magnetic Resonance Imaging
    Paraplegia
    Atrophy
    Spine
    Neurologic Gait Disorders
    Sequence Inversion
    Internal Capsule
    Pyramidal Tracts
    Mutation
    Wheelchairs
    Pons
    Peripheral Nervous System
    Peripheral Nervous System Diseases
    Israel
    Vibration
    Neuroimaging
    Netherlands

    Cite this

    Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., ... Lossos, A. (2012). Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Annals of Neurology, 72(3), 433-441. https://doi.org/10.1002/ana.23598
    Mochel, F. ; Schiffmann, R. ; Steenweg, M.E. ; Akman, H.O. ; Wallace, M. ; Sedel, F. ; Laforet, P. ; Levy, R ; Powers, J.M. ; Demeret, S. ; Maisonobe, T. ; Froissart, R. ; Da Nobrega, B.B. ; Fogel, B.L. ; Natowicz, M.R. ; Lubetzki, C. ; Durr, A. ; Brice, A. ; Rosenmann, H. ; Barash, V. ; Kakhlon, O. ; Gomori, J.M. ; van der Knaap, M.S. ; Lossos, A. / Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. In: Annals of Neurology. 2012 ; Vol. 72, No. 3. pp. 433-441.
    @article{c72df38705d147e997fe3b61fdd3ed22,
    title = "Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings",
    abstract = "Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD. Methods: We gathered clinical, biochemical, and molecular findings in 50 APBD patients with GBE deficiency from Israel, the United States, France, and the Netherlands. Brain and spine magnetic resonance images were reviewed in 44 patients. Results: The most common clinical findings were neurogenic bladder (100{\%}), spastic paraplegia with vibration loss (90{\%}), and axonal neuropathy (90{\%}). The median age was 51 years for the onset of neurogenic bladder symptoms, 63 years for wheelchair dependence, and 70 years for death. As the disease progressed, mild cognitive decline may have affected up to half of the patients. Neuroimaging showed hyperintense white matter abnormalities on T2 and fluid attenuated inversion recovery sequences predominantly in the periventricular regions, the posterior limb of the internal capsule, the external capsule, and the pyramidal tracts and medial lemniscus of the pons and medulla. Atrophy of the medulla and spine was universal. p.Y329S was the most common GBE1 mutation, present as a single heterozygous (28{\%}) or homozygous (48{\%}) mutation. Interpretation: APBD with GBE deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. ANN NEUROL 2012;72:433-441. Copyright {\circledC} 2012 American Neurological Association.",
    author = "F. Mochel and R. Schiffmann and M.E. Steenweg and H.O. Akman and M. Wallace and F. Sedel and P. Laforet and R Levy and J.M. Powers and S. Demeret and T. Maisonobe and R. Froissart and {Da Nobrega}, B.B. and B.L. Fogel and M.R. Natowicz and C. Lubetzki and A. Durr and A. Brice and H. Rosenmann and V. Barash and O. Kakhlon and J.M. Gomori and {van der Knaap}, M.S. and A. Lossos",
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    Mochel, F, Schiffmann, R, Steenweg, ME, Akman, HO, Wallace, M, Sedel, F, Laforet, P, Levy, R, Powers, JM, Demeret, S, Maisonobe, T, Froissart, R, Da Nobrega, BB, Fogel, BL, Natowicz, MR, Lubetzki, C, Durr, A, Brice, A, Rosenmann, H, Barash, V, Kakhlon, O, Gomori, JM, van der Knaap, MS & Lossos, A 2012, 'Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings' Annals of Neurology, vol. 72, no. 3, pp. 433-441. https://doi.org/10.1002/ana.23598

    Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. / Mochel, F.; Schiffmann, R.; Steenweg, M.E.; Akman, H.O.; Wallace, M.; Sedel, F.; Laforet, P.; Levy, R; Powers, J.M.; Demeret, S.; Maisonobe, T.; Froissart, R.; Da Nobrega, B.B.; Fogel, B.L.; Natowicz, M.R.; Lubetzki, C.; Durr, A.; Brice, A.; Rosenmann, H.; Barash, V.; Kakhlon, O.; Gomori, J.M.; van der Knaap, M.S.; Lossos, A.

    In: Annals of Neurology, Vol. 72, No. 3, 2012, p. 433-441.

    Research output: Contribution to JournalArticleAcademicpeer-review

    TY - JOUR

    T1 - Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

    AU - Mochel, F.

    AU - Schiffmann, R.

    AU - Steenweg, M.E.

    AU - Akman, H.O.

    AU - Wallace, M.

    AU - Sedel, F.

    AU - Laforet, P.

    AU - Levy, R

    AU - Powers, J.M.

    AU - Demeret, S.

    AU - Maisonobe, T.

    AU - Froissart, R.

    AU - Da Nobrega, B.B.

    AU - Fogel, B.L.

    AU - Natowicz, M.R.

    AU - Lubetzki, C.

    AU - Durr, A.

    AU - Brice, A.

    AU - Rosenmann, H.

    AU - Barash, V.

    AU - Kakhlon, O.

    AU - Gomori, J.M.

    AU - van der Knaap, M.S.

    AU - Lossos, A.

    PY - 2012

    Y1 - 2012

    N2 - Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD. Methods: We gathered clinical, biochemical, and molecular findings in 50 APBD patients with GBE deficiency from Israel, the United States, France, and the Netherlands. Brain and spine magnetic resonance images were reviewed in 44 patients. Results: The most common clinical findings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal neuropathy (90%). The median age was 51 years for the onset of neurogenic bladder symptoms, 63 years for wheelchair dependence, and 70 years for death. As the disease progressed, mild cognitive decline may have affected up to half of the patients. Neuroimaging showed hyperintense white matter abnormalities on T2 and fluid attenuated inversion recovery sequences predominantly in the periventricular regions, the posterior limb of the internal capsule, the external capsule, and the pyramidal tracts and medial lemniscus of the pons and medulla. Atrophy of the medulla and spine was universal. p.Y329S was the most common GBE1 mutation, present as a single heterozygous (28%) or homozygous (48%) mutation. Interpretation: APBD with GBE deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. ANN NEUROL 2012;72:433-441. Copyright © 2012 American Neurological Association.

    AB - Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD. Methods: We gathered clinical, biochemical, and molecular findings in 50 APBD patients with GBE deficiency from Israel, the United States, France, and the Netherlands. Brain and spine magnetic resonance images were reviewed in 44 patients. Results: The most common clinical findings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal neuropathy (90%). The median age was 51 years for the onset of neurogenic bladder symptoms, 63 years for wheelchair dependence, and 70 years for death. As the disease progressed, mild cognitive decline may have affected up to half of the patients. Neuroimaging showed hyperintense white matter abnormalities on T2 and fluid attenuated inversion recovery sequences predominantly in the periventricular regions, the posterior limb of the internal capsule, the external capsule, and the pyramidal tracts and medial lemniscus of the pons and medulla. Atrophy of the medulla and spine was universal. p.Y329S was the most common GBE1 mutation, present as a single heterozygous (28%) or homozygous (48%) mutation. Interpretation: APBD with GBE deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. ANN NEUROL 2012;72:433-441. Copyright © 2012 American Neurological Association.

    U2 - 10.1002/ana.23598

    DO - 10.1002/ana.23598

    M3 - Article

    VL - 72

    SP - 433

    EP - 441

    JO - Annals of Neurology

    JF - Annals of Neurology

    SN - 0364-5134

    IS - 3

    ER -

    Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Annals of Neurology. 2012;72(3):433-441. https://doi.org/10.1002/ana.23598