Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder

Johal, Jaspreet; Apolo, Ramiro Castro; Johnson, Michael W.; Persch, Michael R; Edwards, Adam L.; Varade, Preet; Yacoub, Hussam A.

doi:10.1080/21548331.2021.1874182

Cited by 3 publications

(2 citation statements)

References 32 publications

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“…Additionally, there is genotypic overlap between GSD IV and APBD, as evidenced by the observation that the GBE1 genotype of patient C3 (c.986A>C and c.671T>C) has also been reported in patients with APBD (27,35). Similarly, patients C1 and C10 were found to share the same GBE1 genotype (c.691+2T>C and c.1544G>A) as a patient who was diagnosed with APBD after presenting with acute-onset spastic quadriparesis at 65 years of age (36). Given these findings, more research is needed to characterize the relationship between hepatic GSD IV and APBD.…”

Section: Discussionmentioning

confidence: 91%

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

Koch,

Kiely,

Choi

et al. 2024

JCI Insight

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Background Glycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally been categorized based on primary hepatic or neuromuscular involvement, with hepatic GSD IV subclassified as discrete subtypes: classic (progressive) and nonprogressive. Methods To better understand the progression of liver disease in GSD IV, we present clinical and histopathology data from 23 patients from around the world and characterized the liver involvement in the Gbe1 ys/ys knockin mouse model. Results We propose an alternative to the established subtype-based terminology for characterizing liver disease in GSD IV and recognize 3 tiers of disease severity: (i) “severe progressive” liver disease, (ii) “intermediate progressive” liver disease, and (iii) “attenuated” liver disease. Analysis of liver pathology revealed that risk for liver failure cannot be predicted from liver biopsy findings alone in individuals affected by GSD IV. Moreover, analysis of postmortem liver pathology from an individual who died over 40 years after being diagnosed with nonprogressive hepatic GSD IV in childhood verified that liver fibrosis did not regress. Last, characterization of the liver involvement in a mouse model known to recapitulate the adult-onset neurodegenerative form of GSD IV ( Gbe1 ys/ys mouse model) demonstrated hepatic disease. Conclusion Our findings challenge the established subtype-based view of GSD IV and suggest that liver disease severity among patients with GSD IV represents a disease continuum. Trial registration ClinicalTrials.gov NCT02683512 Funding None

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Section: Discussionmentioning

confidence: 91%

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

Koch,

Kiely,

Choi

et al. 2024

JCI Insight

View full text Add to dashboard Cite

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“…77 Stroke-like events and movement disorders with parkinsonism and tremor have been reported. [78][79][80] The neuroimaging features are hyperintense white matter abnormalities in the periventricular regions (predominantly in the occipital lobe), the posterior limb of the internal capsule, the external capsule, the cerebellar hemisphere, the pyramidal tracts, and the medial lemniscus of the pons and medulla; the U-fibers and corpus callosum are spared. Atrophy of the medulla and cervical spine is another key universal finding.…”

Section: Apbdmentioning

confidence: 99%

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders

Fu¹,

Chang

2023

JMD

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Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

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Overview of Neuro-Ophthalmic Findings in Leukodystrophies

Bettinger,

Dulz,

Atiskova

et al. 2024

JCM

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Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death. Progressive visual impairment is a common symptom. Currently, no overview of the manifold neuro-ophthalmologic manifestations and visual impact of leukodystrophies exists. Methods: Data from 217 patients in the Hamburg leukodystrophy cohort were analyzed retrospectively for neuro-ophthalmologic manifestations, age of disease onset, and magnetic resonance imaging, visual evoked potential, and optical coherence tomography findings and were compared with data from the literature. Results: In total, 68% of the patients suffered from neuro-ophthalmologic symptoms, such as optic atrophy, visual neglect, strabismus, and nystagmus. Depending on the type of leukodystrophy, neuro-ophthalmologic symptoms occurred early or late during the course of the disease. Magnetic resonance imaging scans revealed pathologic alterations in the visual tract that were temporally correlated with symptoms. Conclusions: The first optical coherence tomography findings in Krabbe disease and metachromatic leukodystrophy allow retinal assessments. Comprehensive literature research supports the results of this first overview of neuro-ophthalmologic findings in leukodystrophies.

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Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder

Cited by 3 publications

References 32 publications

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders

Overview of Neuro-Ophthalmic Findings in Leukodystrophies

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