Acute but transient neurological deterioration revealing adult polyglucosan body disease

Billot, S.; Hervé, Dominique; Akman, Hasan O.; Froissart, Roseline; Baussan, Christiane; Claeys, Kristl G.; Piraud, Monique; Sedel, Frédéric; Mochel, Fanny; Laforêt, Pascal

doi:10.1016/j.jns.2012.10.015

Cited by 14 publications

(20 citation statements)

References 10 publications

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“…Review of the isolated descriptions of misdiagnosed APBD patients from different ethnic backgrounds reveals that our findings are shared by others [3,7,8,11]. APBD is apparently underdiagnosed and, as shown by us, is often misdiagnosed.…”

Section: Discussionsupporting

confidence: 80%

“…Although it is a reasonable option for the specific age range of 5th-6th decade with possible comorbidity [12], and is occasionally suggested when stepwise episodes occur in APBD [7,8], associated peripheral neuropathy and relentlessly progressive course in our patients without significant cognitive impairment argue against, as well as absent microbleeds or areas of restricted diffusion on MRI [12], infrequent lacunar infarcts and invariable spinal cord atrophy.…”

Section: Discussionmentioning

confidence: 94%

“…The most common clinical manifestation is progressive spastic paraparesis associated with sensorimotor axonal polyneuropathy and neurogenic bladder [2,3]. Occasional reports describe hypokinetic rigid syndrome [4], fronto-temporal dementia [5], motor neuron disease [6], stroke-like episodes [7] or relapsing-remitting course and infrequent hepatopathy [8].…”

Section: Introductionmentioning

confidence: 99%

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Frequent misdiagnosis of adult polyglucosan body disease

et al. 2015

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Adult polyglucosan body disease (APBD) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Misdiagnosis of APBD may lead to unnecessary investigations and to potentially harmful therapeutic interventions. To examine the frequency of misdiagnosis of APBD, we retrospectively reviewed the clinical data of 30 patients diagnosed between 1991 and 2013. Diagnosis was based on the combination of typical clinical and imaging findings, reduced glycogen branching enzyme activity, and the presence of p.Y326S GBE1 mutation. Initial symptoms started in the 5th-6th decade with bladder dysfunction (47 %), gait problems (33 %) or both. Diagnosis of APBD was delayed by 6.8 (±4.8) years. Consistent signs at diagnosis were spasticity in the legs (93 %), decreased or absent ankle reflexes (100 %), bilateral extensor plantar response (100 %) and distal sensory deficit (80 %). Nerve conduction study showed invariable sensorimotor polyneuropathy, and MRI demonstrated cervical spinal cord atrophy (100 %) and leukoencephalopathy (97 %). All 30 patients were initially misdiagnosed. Common misdiagnoses included cerebral small vessel disease (27 %), multiple sclerosis (17 %), amyotrophic lateral sclerosis (17 %) and peripheral neuropathies (20 %). Consequently, 27 % received inappropriate therapy. In addition, lower urinary tract symptoms in 60 % of men were attributed solely to prostatic disorders but did not respond to medical treatment or prostatectomy. These findings suggest that despite limited clinical variability, APBD is invariably misdiagnosed and patients are often mistreated. Physicians' unfamiliarity with the typical clinical and imaging features of APBD appears as the main reason for misdiagnosis.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

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Frequent misdiagnosis of adult polyglucosan body disease

et al. 2015

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“…Sensory-motor axonal neuropathy is present in almost all patients, however a myopathy may also occur [3,4]. About 100 APBD patients are presently listed, the vast majority of whom are of Ashkenazi-Jewish ancestry and are homozygous for the p.Y329S mutation in the GBE1 gene [3,[5][6][7][8][9]. About 20 APBD-patients have been recognized in nonAshkenazy populations that carry different mutation compounds [3,4,9,10].…”

Section: Introductionmentioning

confidence: 99%

“…About 100 APBD patients are presently listed, the vast majority of whom are of Ashkenazi-Jewish ancestry and are homozygous for the p.Y329S mutation in the GBE1 gene [3,[5][6][7][8][9]. About 20 APBD-patients have been recognized in nonAshkenazy populations that carry different mutation compounds [3,4,9,10]. Furthermore, atypical disease genotypes have also been described with either full-blown APBD phenotype alone or with overlapping symptoms of other neuro-metabolic or neurodegenerative diseases [7,10,11].…”

Section: Introductionmentioning

confidence: 99%