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At least 19 recordsLinked to original sources
PubMed1979

Degenerative progressive myoclonic epilepsy electrokymographic observations.

Clinical and pathological findings in two cases of degenerative progressive myoclonic epilepsy (PME) are described. The clinically difficult task of differentiating a "cerebellar" tremor from an action myoclonus is emphasized. Simultaneous electroencephalography and electrokymography was done, using capacity to ground transients for recording hand movements. This method was found useful in corroborating the cerebellar nature of the remaining disorder, after successful treatment of the myoclonic element with anticonvulsants.

Adolescent↗
PubMed2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

BACKGROUND: Variants in GBA1 are associated with neurodegenerative disease. This study aimed to explore pathogenic GBA1 variants. METHODS: Four patients with progressive myoclonic epilepsy (PME) and extremely low β-glucosidase levels were recruited. Whole-exome sequencing and long-range PCR were performed to identify GBA1 variants. Bioinformatic analyses were used to predict the impact of the identified variants. A literature review was performed to explore the genotype-phenotype correlations. GBA1 expression data across different brain regions and developmental stages were analyzed using the BrainSpan database. RT-PCR was performed to verify the splicing effects. RESULTS: Compound heterozygous GBA1 variants were identified in four patients. Five distinct variants were detected, including two novel splice site variants (c.308-2A>G and c.762-2A>C) and three previously reported variants. All identified variants were rare or absent in gnomAD. Splice site variants c.308-2A>G and c.762-2A>C were predicted to cause aberrant splicing. Minigene-based splicing assays coupled with RT-PCR and Sanger sequencing confirmed that both variants cause complete exon skipping (exon 4 and exon 7, respectively). All patients presented with PME onset in childhood/adolescence, intellectual regression, low β-glucosidase, and diffuse brain atrophy and were subsequently diagnosed with Gaucher disease type 3. GBA1 expression in the brain showed two distinct peaks: one in infancy and another after five years of age. The onset age of PME aligned with the second GBA1 expression peak (after five years of age). CONCLUSION: This study identified compound heterozygous GBA1 variants, including two novel candidate pathogenic splice site variants, in Gaucher disease type 3 patients, expanding the known mutational spectrum.

Humans↗
PubMed1978

[A family with progressive myoclonus epilepsy (author's transl)].

To begin, a survey of the literature concerning the group of progressive myoclonic epilepsies is presented, from the initial descriptions of Unverricht (1891) and Lundborg (1903) to the present. Recently several subforms of this nosologic entity have been delineated according to the mode of inheritance, time of manifestation, severity of course, and biochemical characteristics (i.e, eventual demonstration of mucopolysaccharide storage in Lafora bodies or diffuse in the central nervous system and other organs). The most useful classification stems from Diebold (1972): early (I) and late (II) forms of the Lafora type having autosomal recessive inheritance; an autosomal recessive early form (III) and an autosomal dominant late form (IV) with degenerative changes in the central nervous system without biochemical disturbances. The authors describe 3 young siblings from Southern Tyrol, who clinically manifested the cardinal symptoms of the disease in addition to extrapyramidal cerebellar disturbances. In spite of extensive bioptic and biochemical examinations, neither Lafora bodies nor diffuse deposits or excretion of mucopolysaccharides could be demonstrated. The distant blood relationship between the parents of these patients supports the assumption of an autosomal recessive mode of transmission. The relatively early manifestation of the disease and the demonstration of degenerative changes within the central nervous system suggest assignment of these patients to Diebold's subgroup III of the progressive myoclonic epilepsy.

Adolescent↗
PubMedDate not supplied

[Lafora disease (author's transl)].

On the basis of 21 personal observations as well as those (82) from the litterature, it is concluded that the progressive myoclonic epilepsy with Lafora bodies (P.M.E.) constitutes a disease on its own. The clinical features are those described in the litterature observations and completed by some characteristics; the high frequency of visual symptoms (47 p. 100 personal cases); the relatively less bad evolution of epilepsy, perhaps in relation with use of modern drugs; the relatively moderate intensity of myoclonus which becomes complete only at the end of the evolution. From E.E.G. point of view, we can distinguish three periods: an initial one at the very onset of disease, who will show the same features as observated in primary generalized epilepsy, i.e. a well preserved background activity with superimposed generalized fast spikes and waves facilitated by the I.L.S. Then follows a period of evolutive E.E.G. (1-2 years after the onset of the disease) characterized by progressive slowing of the posterior background, enlargement of posterior slow activity and appearance of diffuse theta and delta activity. Simultaneously spikes and waves are taking less typical and bisynchronous aspect. Finally after 3 to 5 years from the onset there is a diffusely slow E.E.G. with superimposed fast multiple spikes. The E.E.G. findings in litterature usually refer only to this last period (stationary or terminal period). Occipital independent multiple spikes are frequently observed and could correlate with the visual symptoms observated in the Lafora disease. Some elements of differential diagnosis are given with respect to primary generalized epilepsy at the onset of the disease and later on with respect to dyssynergia cerebellaris myoclonica and to the progressive myoclonic epilepsy without Lafora bodies.

Adolescent↗
PubMed1978

Myoclonus developing after vermisectomy in photosensitive Papio papio.

Two vermisectomized photosensitive baboons exhibited two different types of myoclonus, one induced by intermittent light stimulation (ILS) and the other occuring "spontaneously". The characteristics of these two types of myoclonus are described from a clinical and from an ECoG point of view. Myoclonus induced by ILS (ML) started at the eyelids and secondarily invaded the face and body; it was always preceded by frontorolandic spike-waves or polyspike-waves. The "spontaneous" myoclonus which followed vermisectomy (MV) was "massive", but involved firstly the trunk and secondarily the face and limbs; no ECoG paraoxysm accompanied this myoclonus, but we observed a parietal evoked potential of small amplitude, 10--15 msec after its onset. If MLs can be considered as consequences of the fronto-rolandic paroxysmal discharges, MVs seem to originate in the brain stem but appear similar to action myoclonus. This experimental situation showing two types of myoclonus resembles human hereditary degenerative syndromes (dyssynergic cerebellar myoclonus, progressive myoclonic epilepsy), without being exactly comparable. The conditions in which MVs were seen and their modifications during sleep and by different drugs are described. The relationships between MVs and MLs and myoclonic epilepsy are discussed.

Animals↗
PubMed1978

Electroencephalographic studies myoclonus.

Electroencephalographic studies were carried out in 30 patients with various kinds of myoclonus. It was confirmed that the technique of jerk-locked averaging with a backward averaging program was useful for detecting cortical spikes in association with the spontaneously occurring myoclonus, which are not recognized on the convential polygraph, and for evaluating the temporal and topographical relationship between the spike and the myoclonus. By this technique, cortical spikes were shown to precede the myoclonus of a contralateral upper extremity muscle by 7 to 15 ms ith progressive myoclonic epilepsy showed a high amplitude somatosensory evoked potential (SEP) in response to electrical stimulation of the median nerve. The N33 component of this high amplitude SEP was found to be similar to the myoclonus-related cortical spike in their wave form, time relationship and topographical distribution, suggesting an involvement of similar physiological mechanisms in the genesis of both phenomena. Myoclonus in these patients is compatible with "pyramidal" or "cortical loop reflex" type.

Adolescent↗
PubMedDate not supplied

[Therapeutic effects of taurine in epilepsy: a clinical and polyphysiographic study (author's transl)].

A study was carried out after i.v. administration of 200 mg/Kg of taurine on 37 epileptic patients in whom frequency and duration of seizures was considerable. Twenty-two subjects were given taurine for 15 consecutive days and then, once a week for a period of 6 weeks. In 5 control cases, the daily dosage wascontinued up to the 30th day; in 5 more, up to the 45th day and finally, in 5 up to the 60th day. Out of 37 patients 15 had temporal lobe epilepsy, 10 were cases of Lennox-Gastaut syndrome, 5 had generalised epilepsy, either convulsive or non-convulsive, 4 had H.H.E. syndrome and three brothers had myoclonic familial progressive epilepsy. In each group the results were similar and may be summarised as follows: I) both interictal activity and electroclinical seizures were reduced by about 30% within the first 10 days of administration; II) between the 30th and 45th day the ictal and interictal activity returned to its initial values; III) after this period, on the 60th day, values were similar to the initial ones; IV) as far as interictal activity is concerned, the same effect was found during nocturnal sleep; V) no significant changes were noticed in nocturnal sleep cycles and stages; VI) there was no apparent evidence that any phase of sleep might facilitate any improvement. Improvement was observed in about 50% of the cases (21) both physically and psychologically. The physical improvement was noticed above all in the appearence of the skin while the psychological improvement was mostly related to both attention and memory. Any pathological aspect of personality did not appear to be modified.

Adolescent↗
PubMed2023

Retinal Phenotyping of a Murine Model of Lafora Disease.

Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates termed Lafora bodies (LBs). This study aimed to characterize the retinal phenotype in Epm2a-/- mice by examining knockout (KO; Epm2a-/-) and control (WT) littermates at two time points (10 and 14 months, respectively). In vivo exams included electroretinogram (ERG) testing, optical coherence tomography (OCT) and retinal photography. Ex vivo retinal testing included Periodic acid Schiff Diastase (PASD) staining, followed by imaging to assess and quantify LB deposition. There was no significant difference in any dark-adapted or light-adapted ERG parameters between KO and WT mice. The total retinal thickness was comparable between the groups and the retinal appearance was normal in both groups. On PASD staining, LBs were observed in KO mice within the inner and outer plexiform layers and in the inner nuclear layer. The average number of LBs within the inner plexiform layer in KO mice were 1743 ± 533 and 2615 ± 915 per mm2, at 10 and 14 months, respectively. This is the first study to characterize the retinal phenotype in an Epm2a-/- mouse model, demonstrating significant LB deposition in the bipolar cell nuclear layer and its synapses. This finding may be used to monitor the efficacy of experimental treatments in mouse models.

Mice↗
PubMed1977

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome.

Two unrelated patients with the cherry red spot--myoclonus syndrome, a rare chronic neuronal storage disorder that begins in childhood with progressive myoclonus, cherry red spots at the macula, and easily controlled seizures, but no dementia, have been investigated electrophysiologically in order to characterize the myoclonic and electroencephalographic features of this syndrome. Phenomenologically, the disease most closely resembles the Ramsay Hunt syndrome, although certain unique features are noted and the patients are not photosensitive. Pathologically and clinically, the disease is related to mucolipidosis type I and atypical cases of GM1 gangliosidosis, and the EEGs obtained from our patients are identical to those seen in mucolipidosis type I. Because of the unusual clinical picture presented in this disease, there should be no difficulty in differentiating it from other more malignant storage disorders and progressive myoclonus epilepsies of childhood. Electrophysiological findings suggest that the myoclonic jerks do not originate cortically, but the specific subcortical generators have not been identified.

Adolescent↗
PubMed1977

[Electrophysiogical and neuropharmacological studies in a patient with progressive myoclonus-epilepsy (author's transl)].

A progressive form of myoclonus-epilepsy was described in an 21 year old girl. Electrophysiological and neuropharmacological studies were carried out. The typical EEG-pattern, the close association of cortical discharges and myoclonic jerks, the form of myoclonus indicated a "pyramidal" myoclonus. Pharmacological data suggested that two possible mechanisms--a partial deafferentation of cortical neurones and a failure of thalamic, extrapyramidal and brain stem reticular formations--might be responsible for the EEG-abnormalities and concomitant myoclonus. Results from neuropharmacological studies demonstrated a suppressive effect (on EEG-discharges and myoclonic jerks) of clonazepam, diazepam, phenobarbital, taurine, levodopa and budipin. Taurine, levodopa and budipin might induce a new aspect in therapy of progressive myoclonus epilepsy and of myoclonus caused by other etiologic factors.

Adult↗
PubMed1978

Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy.

We present the pathologic findings, including electron microscopy, in one of two affected borthers with severe progressive myoclonus epilepsy, beginning in our patient at the age of 10 and leading to death at age 23. At autopsy there was widespread and marked neuroaxonal dystrophy, severe cerebellar atrophy, and tract degenerations in the gracilis columns and the lateral corticospinal tracts in the spinal cord. There was no increased pigmentation in the globus pallidus or reticular zone of the substantia nigra, on gross or microscopic examination. We regard this case as an example of a juvenile form of neuroaxonal dystrophy (Seitelberger's disease). The absence of pallido-nigral hyperpigmentation distinguishes this disease from Hallervorden-Spatz disease, which we regard as a separate disease entity.

Adult↗
PubMed1978

The contribution of evoked potentials in the functional assessment of the somatosensory pathway.

The value of evoked potentials in studying conduction in the somatosensory pathway was assessed in patients with various neurological disorders. In patients with multiple sclerosis (MS) abnormalities of the cervical response (N14) were found particularly in longstanding cases but also in the early stages of the disease, even in patients without sensory symptoms or signs, and were reversible in some patients. The cortical response was also abnormal in some cases but the two were not always affected together. In Friedreich's ataxia both the cervical and cortical responses were usually abnormal. Subclinical abnormalities of the cervical responses were found in some patients with hereditary spastic paraparesis or mixed forms of spinocerebellar ataxia. The cervical responses were also abnormal in patients with peripheral neuropathy and cervical radiculopathy, and in some patients with brain-stem or thalamic lesions. Cervical and cortical responses were normal in the lateral medullary syndrome, whereas the cortical response was markedly abnormal in patients with high brain-stem or cerebral hemisphere vascular lesions. Cortical and subcortical responses were abnormal in some patients with stereotactic thalamic lesions. Enhanced cortical responses were found in patients with lesions at different levels in the CNS. The most marked enhancement was observed in patients with familial myoclonic epilepsy. Lesser degrees were found in some patients with MS, progressive supranuclear palsy, thalamic lesions, brain-stem encephalitis and syringomyelia. Enhanced responses were usually found in patients with minimal or no clinical sensory involvement. It is postulated that this type of abnormality results from an interference to the inhibitory mechanisms which normally operate at various levels in the somatosensory pathway. It is concluded that evoked potential studies are a valuable adjunct to the clinical evaluation of sensation, and that they may provide useful information on the pathophysiology of conduction in the somatosensory pathway.

Brain Diseases↗
PubMed1977

Pigment variant of neuronal ceroid-lipofuscinosis (Kufs' disease).

A case of pigment variant of Kufs' disease is presented. The nature of the extra-neuronal pigment is discussed. Despite some of the histochemical discrepancies that existed between this pigment and the material that had accumulated in the nerve cells, they seemed to be ultrastructurally related. The hepatocytes contained numerous heterogeneous cytosomes, some of which resembled the storage material of Niemann-Pick's disease. Clinically the syndrome may present with progressive ataxia, spontaneous and reflex, coarse myoclonic jerks and eventual mental deterioration as well as epilepsy and muscle wasting. The pigment variant cannot be distinguished from Kufs' disease except pathologically.

Adult↗
PubMed1976

Experiences on the use of dipropylacetate in the treatment of childhood epilepsy.

The antiepileptic efficiency of dipropylacetate (DPA) was studied in 80 epileptic children who suffered either from seizures resistant to previous medication, so-called idiopathic epilepsy or progressive myoclonus epilepsy. The average peroral daily dosage of DPA was 21 mg/kg divided into 2 to 3 doses. DPA was most effective in cases with 1) so-called idiopathic epilepsy (genuine petit mal, photogenic epilepsy, myoclonic petit mal in older children), 2) seizures beginning in later childhood years, 3) photosensitive and hyperventilation-sensitive seizures, 4) EEG showing symmetric generalized spike-slow wave complexes provoked by photostimulation, 5) EEG without generalized disturbance or focal findings, 6) normal neurological and mental status, 7) progressive myoclonus epilepsy. DPA may thus be recommended for the treatment of the above-mentioned cases and, due to good treatment results, also tried in other types of epilepsy.

Adolescent↗
PubMed1979

Progressive myoclonus epilepsy. A variant with probable X-linked inheritance.

The syndrome of myoclonus, epilepsy, and mental deficiency is observed in a number of distinct nosologic entities differing with respect to clinical course, (--) pathologic, and biochemical findings. Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosomal recessive and dominant forms with incomplete penetrance. In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, ataxia, and mental deterioration. The syndrome is probably X-linked, as suggested by the maternal transmission and mild, variable symptoms in some female carriers. In a survey of the literature we have found another pedigree suggesting X-linked inheritance of this variant of progressive myoclonus epilepsy.

Adult↗