Stable neuropsychological deficits in adult polyglucosan body disease

Savage, Greg; Ray, Fiona R.; Halmagyi, Michael; Blazely, Angela; Harper, Clive

doi:10.1016/j.jocn.2006.03.001

Cited by 14 publications

(4 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Baseline neuropsychological results confirmed the patient's subjectively reported deficits (processing speed, motor function and memory). Prior studies of APBD patients typically reported learning and motor function deficits, as well as memory problems, but not processing speed . Comprehensive testing in APBD patients should be considered since a simple clinical evaluation (e.g., Folstein MMSE) failed to identify cognitive impairment in our patient and in a prior case …”

Section: Discussionmentioning

confidence: 75%

See 1 more Smart Citation

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient

Lee

Ernst

Løhaugen

et al. 2017

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Glycogen storage disease type‐IV has varied clinical presentations and subtypes. We evaluated a 38‐year‐old man with memory complaints, common symptoms in adult polyglucosan body disease subtype, and investigated cognitive and functional MRI changes associated with two 25‐sessions of adaptive working memory training. He showed improved trained and nontrained working memory up to 6‐months after the training sessions. On functional MRI, he showed increased cortical activation 1–3 months after training, but both increased and decreased activation 6‐months later. Working memory training appears to be beneficial to patients with adult polyglucosan body disease, although continued training may be required to maintain improvements.

show abstract

Section: Discussionmentioning

confidence: 75%

“…Approximately 50% of APBD patients exhibit memory problems or dementia, but few studies investigated cognitive changes over time . Our patient had an earlier age of onset for neurological signs of APBD, which might have resulted from his childhood manifestation of GSD‐IV with residual brain injury and lesser cognitive reserve.…”

Section: Discussionmentioning

confidence: 84%

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient

Lee

Ernst

Løhaugen

et al. 2017

Ann Clin Transl Neurol

View full text Add to dashboard Cite

show abstract

“…Furthermore, these patients typically present with other neurological symptoms attributable to these lesions, such as seizures, cognitive deficits, neurogenic bladder, and neuropathy. [21] The unilateral lesion and lack of other neurological symptoms make APBD an unlikely diagnosis in our patient.…”

Section: Discussionmentioning

confidence: 89%

Corpora amylacea mimicking low-grade glioma and manifesting as a seizure: Case report

Lee¹,

Kim²,

Lagman³

et al. 2017

Surg Neurol Int

View full text Add to dashboard Cite

Background:Corpora amylacea (CA) are accumulations of polyglucosan bodies typically found in astrocytic foot processes, and rarely, can mimic neoplasm. CA accumulation has also been associated with seizure disorders. We report the first case of a histologically confirmed intracranial, intraparenchymal CA lesion mimicking a low-grade glioma and manifesting as a seizure.Case Description:A 43-year-old man presented after a general tonic–clonic (GTC) seizure. Brain magnetic resonance imaging (MRI) revealed a small lesion in the right mesial temporal lobe with radiologic features of a low-grade glioma. The patient underwent a right pteronial craniotomy for resection of the lesion. Histology demonstrated abundant polyglucosan bodies without neoplastic features. The patient tolerated the procedure well, was free from seizures without antiepileptic drugs at 2-week follow-up, and is undergoing serial surveillance.Conclusion:The clinical manifestation of CA as a seizure in the context of an identified brain mass is extraordinarily rare. Nevertheless, CA should be considered in the differential diagnosis for patients with seizures and a radiologically identifiable low-grade lesion. Symptomatic CA lesions Mimicking a low-grade glioma should be surgically pursued with a goal of safe, maximal resection to confirm the diagnosis and to provide the patient with prognosis, which can significantly impact patient quality of life.

show abstract

“…Over 25 years ago, Rifai and colleagues (1994) performed a non-systematic review of cognitive symptoms of 24 published APBD cases and observed varying cognitive deficits, mainly in the domain of memory, in about half of the reported cases. A substantial number of new cases of APBD have been published in the last decades, some of them explicitly addressing cognitive impairment in APBD and providing detailed but heterogeneous results of neuropsychological measurements [4][5][6][7][8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Characterization of cognitive impairment in adult polyglucosan body disease

et al. 2022

View full text Add to dashboard Cite

Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptoms and dementia have been reported in APBD but have not been studied systematically. Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a patient with severe memory impairment along with the typical non-cognitive symptoms. We were able to confirm a reduction of GBE1 activity in blood lymphocytes. To characterize the neuropsychological profile of patients suffering from APBD, we conducted a systematic review of cognitive impairment in this rare disease. Analysis of 24 cases and case series (in total 58 patients) showed that executive deficits and memory impairment are the most common cognitive symptoms in APBD.

show abstract

Stable neuropsychological deficits in adult polyglucosan body disease

Cited by 14 publications

References 6 publications

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient

Corpora amylacea mimicking low-grade glioma and manifesting as a seizure: Case report

Characterization of cognitive impairment in adult polyglucosan body disease

Contact Info

Product

Resources

About