Neurological impairment in α-mannosidosis: a longitudinal clinical and MRI study of a brother and sister

Ara, J.R.; Mayayo, E; Marzo, M. E.; Guelbenzu, S; Chabás, Amparo; Pina, M. A.; Calderón, Carlos

doi:10.1007/s003810050416

Cited by 26 publications

(27 citation statements)

References 7 publications

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“…Also, their behavioral and cognitive abilities did not noticeably deteriorate during the course of this longitudinal study, which is in accordance with some observations in human patients (Noll et al, 1986(Noll et al, , 1989Ara et al, 1999). In most lysosomal storage disorders, the molecular mechanism of the neuronal impairment is not known, and the amount of storage often correlates poorly with the neuronal dysfunction (Tardy et al, 2004).…”

Section: Discussionsupporting

confidence: 73%

“…However, scores for general intelligence and visuospatial abilities remained remarkably stable in a 6-year follow-up of three ␣-mannosidase-deficient brothers (Noll et al, 1986(Noll et al, , 1989. In two patients with type II phenotype, their severe neuropsychological deficiency did not progress over a period of 25 years (Ara et al, 1999). Psychopathological alterations include hyperphagia (Owayed and Clarke, 1997) and recurrent paranoidhallucinatory episodes (Seidl et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

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Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis

D’Hooge¹,

Lüllmann‐Rauch²,

Beckers³

et al. 2005

J. Neurosci.

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Mice with ␣-mannosidase gene inactivation provide an experimental model for ␣-mannosidosis, a lysosomal storage disease with severe neuropsychological and psychopathological complications. Neurohistological alterations in these mice were similar to those in patients and included vacuolations and axonal spheroids in the CNS and peripheral nervous system. Vacuolation was most prominent and evenly distributed in neuronal perikarya of the hippocampal CA2 and CA3 regions, whereas CA1 and dentate gyrus were weakly or not affected. Field potential recordings from CA1 region in hippocampal slices showed enhanced theta burst-induced long-term potentiation (LTP) in ␣-mannosidase-deficient mice. Longitudinal assessment in age-matched ␣-mannosidase-deficient and wild-type littermates, using an extended test battery, demonstrated a neurocognitive and psychotiform profile that may relate to the psychopathological alterations in clinical ␣-mannosidosis. Brainstem auditory-evoked potentials and basic neuromotor abilities were not impaired and did not deteriorate with age. Exploratory and conflict tests revealed consistent decreases in exploratory activity and emotional blunting in the knock-out group. ␣-Mannosidosis mice were also impaired in aversively motivated learning and acquisition of signal-shock associations. Acquisition and reversal learning in the water maze task, passive avoidance learning in the step-through procedure, as well as emotional response conditioning in an operant procedure were all impaired. Acquisition or shaping of an appetitive instrumental conditioning task was unchanged. Appetitive odor discrimination learning was only marginally impaired during shaping, whereas both the discrimination and reversal subtasks were normal. We propose that prominent storage and enhanced LTP in hippocampus have contributed to these specific behavioral alterations in ␣-mannosidase-deficient mice.

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Section: Discussionsupporting

confidence: 73%

Section: Introductionmentioning

confidence: 99%

Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis

D’Hooge¹,

Lüllmann‐Rauch²,

Beckers³

et al. 2005

J. Neurosci.

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“…Research regarding the cognitive function in patients with AM is limited to case-reports, each describing only 1-5 patients using different tests tools (Ara et al 1999;Noll et al 1986;Noll et al 1989;Yesilipek et al 2012;Yunis et al 1976;Michelakakis et al 1995;Mitchell et al 1981;Niemann et al 1996;Patton et al 1982).…”

Section: Communicated By: Carla E Hollakmentioning

confidence: 99%

Cognitive profile and activities of daily living: 35 patients with alpha‐mannosidosis

Borgwardt

Thuesen²,

Olsen³

et al. 2015

J of Inher Metab Disea

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“…Findings on neuroimaging include periventricular white matter changes, enlarged Virchow-Robin spaces, enlarged suprasellar cistern, narrow foramen magnum, and small posterior fossa (Ara et al 1999;Dietemann et al 1990;Niemann et al 1996;Gutschalk et al 2004).…”

mentioning

confidence: 99%

Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

2013

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a-Mannosidosis, OMIM #248500, is an autosomal recessive lysosomal storage disease caused by acidic a-mannosidase deficiency. Treatment options include bone marrow transplantation (BMT) and, possibly in the future, enzyme replacement therapy. Brain magnetic resonance spectroscopy (MRS) enables non-invasive monitoring of cerebral treatment effect. Accumulated cerebral mannosecontaining oligosaccharides were demonstrated by MRS in a patient who at age 2 years and 11 months received a BMT from a haploidentical non-carrier sibling. The cerebral mannose-containing oligosaccharides had disappeared as early as 9½ months after BMT. MRS furthermore demonstrated the persistent treatment effect at regular intervals up to 5½ years after BMT. MRS is a non-invasive tool that can demonstrate the effect of BMT treatment. Likewise, MRS may be used to demonstrate the cerebral effect of other potential treatments such as enzyme replacement therapy.

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Neurological impairment in α-mannosidosis: a longitudinal clinical and MRI study of a brother and sister

Cited by 26 publications

References 7 publications

Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis

Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis

Cognitive profile and activities of daily living: 35 patients with alpha‐mannosidosis

Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

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