Adult polyglucosan body disease associated with an extrapyramidal syndrome
Identifieur interne : 000079 ( Pmc/Curation ); précédent : 000078; suivant : 000080Adult polyglucosan body disease associated with an extrapyramidal syndrome
Auteurs : N. Robertson ; S. Wharton ; J. Anderson ; N. ScoldingSource :
- Journal of Neurology, Neurosurgery, and Psychiatry [ 0022-3050 ] ; 1998.
Abstract
A 50 year old patient is described who presented with parkinsonism, frontal dementia, peripheral neuropathy, neurogenic bladder, and upper motor neuron signs. No improvement in objective measurements of extrapyramidal dysfunction were seen with an incremental apomorphine test or more prolonged oral dopamine challenge. Neurophysiology disclosed changes compatible with a diffuse axonal neuropathy and pathological examination of a length of sural nerve taken at biopsy showed multiple polyglucosan bodies characteristic of adult polyglucosan body disease (APGBD). This case underlines the diverse clinical presentation of this rare neurological disease and the importance of recognising the unusual association of clinical features in making the diagnosis. APGBD should be included in the differential diagnosis of parkinsonism unresponsive to dopaminergic therapy.
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PubMed: 9810960
PubMed Central: 2170328
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<author><name sortKey="Wharton, S" sort="Wharton, S" uniqKey="Wharton S" first="S" last="Wharton">S. Wharton</name>
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<author><name sortKey="Anderson, J" sort="Anderson, J" uniqKey="Anderson J" first="J" last="Anderson">J. Anderson</name>
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<author><name sortKey="Scolding, N" sort="Scolding, N" uniqKey="Scolding N" first="N" last="Scolding">N. Scolding</name>
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<front><div type="abstract" xml:lang="en"><p>A 50 year old patient is described who presented with
parkinsonism, frontal dementia, peripheral neuropathy, neurogenic
bladder, and upper motor neuron signs. No improvement in objective
measurements of extrapyramidal dysfunction were seen with an
incremental apomorphine test or more prolonged oral dopamine challenge.
Neurophysiology disclosed changes compatible with a diffuse axonal
neuropathy and pathological examination of a length of sural nerve
taken at biopsy showed multiple polyglucosan bodies characteristic of adult polyglucosan body disease (APGBD). This case underlines the
diverse clinical presentation of this rare neurological disease and the
importance of recognising the unusual association of clinical features
in making the diagnosis. APGBD should be included in the differential
diagnosis of parkinsonism unresponsive to dopaminergic therapy.
</p>
</div>
</front>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">J Neurol Neurosurg Psychiatry</journal-id>
<journal-title>Journal of Neurology, Neurosurgery, and Psychiatry</journal-title>
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<aff>University of Cambridge Neurology Unit, Addenbrooke's Hospital, UK.</aff>
<pub-date pub-type="ppub"><month>11</month>
<year>1998</year>
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<volume>65</volume>
<issue>5</issue>
<fpage>788</fpage>
<lpage>790</lpage>
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<abstract><p>A 50 year old patient is described who presented with
parkinsonism, frontal dementia, peripheral neuropathy, neurogenic
bladder, and upper motor neuron signs. No improvement in objective
measurements of extrapyramidal dysfunction were seen with an
incremental apomorphine test or more prolonged oral dopamine challenge.
Neurophysiology disclosed changes compatible with a diffuse axonal
neuropathy and pathological examination of a length of sural nerve
taken at biopsy showed multiple polyglucosan bodies characteristic of adult polyglucosan body disease (APGBD). This case underlines the
diverse clinical presentation of this rare neurological disease and the
importance of recognising the unusual association of clinical features
in making the diagnosis. APGBD should be included in the differential
diagnosis of parkinsonism unresponsive to dopaminergic therapy.
</p>
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