Neuropathological Studies in Three Scandinavian Cases of Progressive Myoclonus Epilepsy

Haltia, Matti; Kristensson, Krister; Sourander, Patrick

doi:10.1111/j.1600-0404.1969.tb01220.x

Cited by 67 publications

(14 citation statements)

References 23 publications

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“…In agreement, limited histopathological data on EPM1 patients have shown loss of cerebellar granule and Purkinje cells as well as neuronal degeneration and loss in the cerebral cortex, striatum, thalamus and brain stem [1], [21]–[23]. Although the progressive nature of atrophy in EPM1 patients has been difficult to demonstrate, the severity of myoclonia has been shown to be associated with cortical thinning [8].…”

Section: Discussionmentioning

confidence: 77%

Progressive Volume Loss and White Matter Degeneration in Cstb-Deficient Mice: A Diffusion Tensor and Longitudinal Volumetry MRI Study

et al. 2014

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Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1, OMIM 254800) is an autosomal recessive disorder characterized by onset at the age of 6 to 16 years, incapacitating stimulus-sensitive myoclonus and tonic-clonic epileptic seizures. It is caused by mutations in the gene encoding cystatin B. Previously, widespread white matter changes and atrophy has been detected both in adult EPM1 patients and in 6-month-old cystatin B–deficient mice, a mouse model for the EPM1 disease. In order to elucidate the spatiotemporal dynamics of the brain atrophy and white matter changes in EPM1, we conducted longitudinal in vivo magnetic resonance imaging and ex vivo diffusion tensor imaging accompanied with tract-based spatial statistics analysis to compare volumetric changes and fractional anisotropy in the brains of 1 to 6 months of age cystatin B–deficient and control mice. The results reveal progressive but non-uniform volume loss of the cystatin B–deficient mouse brains, indicating that different neuronal populations possess distinct sensitivity to the damage caused by cystatin B deficiency. The diffusion tensor imaging data reveal early and progressive white matter alterations in cystatin B–deficient mice affecting all major tracts. The results also indicate that the white matter damage in the cystatin B–deficient brain is most likely secondary to glial activation and neurodegenerative events rather than a primary result of CSTB deficiency. The data also show that diffusion tensor imaging combined with TBSS analysis provides a feasible approach not only to follow white matter damage in neurodegenerative mouse models but also to detect fractional anisotropy changes related to normal white matter maturation and reorganisation.

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Section: Discussionmentioning

confidence: 77%

Progressive Volume Loss and White Matter Degeneration in Cstb-Deficient Mice: A Diffusion Tensor and Longitudinal Volumetry MRI Study

et al. 2014

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“…The EEG is abnormally slow from the beginning on; high-voltage generalized spike waves are found even before the clinical onset; they can later be elicited by tactile or auditory stimulation ; photosensitivity is common. Loss of Purkinje cells is the only consistent neuropathologic finding (27).…”

Section: Discussionmentioning

confidence: 90%

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus

Genton¹,

Michelucci

Tassinari

et al. 2009

Acta Neurologica Scandinavica

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Among progressive myoclonus epilepsies (PME), the nosography of the Ramsay Hunt syndrome (RHS) has been much debated. The authors report on a homogeneous group of 43 patients originating from around the western Mediterranean, with a large number of northern African subjects, who were followed up for a mean period of 11.6 years. Onset is between 6 and 17 years (mean: 11.2) and the transmission appears to be recessive. The clinical features include: action myoclonus, generalized epileptic seizures, mild cerebellar signs and lack of dementia. EEG features include normal background activity, spontaneous fast generalized spike‐wave discharges, photosensitivity, lack of activation during nREM sleep and vertex/rolandic spikes during REM sleep. The prognosis is variable, even within families, but the progression seems to be slow in a majority of patients. This condition can be distinguished from mitochondrial encephalomyopathy and is less severe than Baltic myoclonus. The authors propose that this form of PME, formerly reported as RHS, be more properly described as Mediterranean myoclonus.

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“…Mutations in the cystatin B gene cause Unverricht‐Lundborg disease, which is typically characterized by severe progressive CM, ataxia, and tonic‐clonic seizures . The neuropathological profile of this disorder is defined by cerebellar atrophy with profound loss of Purkinje cells and gliotic changes and milder but widespread supratentorial changes …”

Section: Inhibitory Neurotransmissionmentioning

confidence: 99%

“…34 The neuropathological profile of this disorder is defined by cerebellar atrophy with profound loss of Purkinje cells and gliotic changes and milder but widespread supratentorial changes. 59,88 Moreover, not only GABA A but additional other neurotransmitters have been implicated in the pathogenesis of CM. A recent mutation of the A-amino-bcarboxymuconate-e-semialdehyde decarboxylase (ACMSD) gene has been identified in one family with FCMTE.…”

Section: Inhibitory Neurotransmissionmentioning

confidence: 99%

The role of the cerebellum in the pathogenesis of cortical myoclonus

et al. 2014

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The putative involvement of the cerebellum in the pathogenesis of cortical myoclonic syndromes has been long hypothesized, as neuropathological changes in patients with cortical myoclonus have most commonly been found in the cerebellum rather than in the suspected culprit, the primary somatosensory cortex. A model of increased cortical excitability due to loss of cerebellar inhibitory control via cerebello-thalamo-cortical connections has been proposed, but evidence remains equivocal. Here, we explore this hypothesis by examining syndromes that present with cortical myoclonus and ataxia. We first describe common clinical characteristics and underlying neuropathology. We critically view information on cerebellar physiology with regard to motorcortical output and compare findings between hypothesized and reported neurophysiological changes in conditions with cortical myoclonus and ataxia. We synthesize knowledge and focus on neurochemical changes in these conditions. Finally, we propose that the combination of alterations in inhibitory neurotransmission and the presence of cerebellar pathology are important elements in the pathogenesis of cortical myoclonus.

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Neuropathological Studies in Three Scandinavian Cases of Progressive Myoclonus Epilepsy

Cited by 67 publications

References 23 publications

Progressive Volume Loss and White Matter Degeneration in Cstb-Deficient Mice: A Diffusion Tensor and Longitudinal Volumetry MRI Study

Progressive Volume Loss and White Matter Degeneration in Cstb-Deficient Mice: A Diffusion Tensor and Longitudinal Volumetry MRI Study

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus

The role of the cerebellum in the pathogenesis of cortical myoclonus

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