Long-term evolution of EEG in Unverricht-Lundborg disease

Ferlazzo, Edoardo; Magaudda, Adriana; Striano, Pasquale; Nguyen, Vi-Hong; Serra, Salvatore; Genton, Pierre

doi:10.1016/j.eplepsyres.2006.10.006

Cited by 60 publications

(43 citation statements)

References 8 publications

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“…Neurophysiologic features of our patients resembled those of other forms of PME. Indeed, preserved EEG background activity at the onset, with sporadic generalized spike‐and‐wave discharges has been described in ULD (Ferlazzo et al., 2007) and, in the earliest disease stages of Lafora disease (Tassinari et al., 1978), as well as in rarer PMEs. Over the years, a progressive slowing of EEG background activity in four of five patients paralleled the worsening of the clinical condition; in the fifth, still alive, patient, after 5 years from the onset, the EEG background activity is still within normal limits.…”

Section: Discussionmentioning

confidence: 99%

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

et al. 2011

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Summary Purpose: Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction. We describe the clinical and neurophysiologic features of PME associated with SCARB2 mutations without renal impairment. Methods: Clinical and neurophysiologic investigations, including wakefulness and sleep electroencephalography (EEG), polygraphic recording (with jerk‐locked back‐averaging and analysis of the EEG–EMG (electromyography) relationship by coherence spectra and phase calculation), multimodal evoked potentials, and electromyography were performed on five Italian patients with SCARB2 mutations. Key Findings: The main clinical features were adolescent–young adulthood onset, progressive action myoclonus, ataxia, absence of cognitive deterioration and, in most cases, epilepsy. The severity of the epilepsy could vary from uncontrolled seizures and status epilepticus in patients with adolescent onset to absent or rare seizures in patients with adult onset. Relevant neurophysiologic findings were a pronounced photosensitivity and massive action myoclonus associated with rhythmic myoclonic jerks at a frequency of 12–20 Hz, clinically resembling a postural tremor. The cortical origin of rhythmic myoclonus was demonstrated mainly by coherence and phase analysis of EEG–EMG signals indicating a significant EEG–EMG coupling and a direct corticospinal transfer. Significance: Our patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of PME, in which epilepsy could be extremely severe, extending the spectrum reported in the typical AMRF syndrome. Patients with PME of unknown origin of adolescent or young adult onset, with these neurophysiologic features, should be tested for SCARB2 mutations, even in the absence of renal impairment.

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Section: Discussionmentioning

confidence: 99%

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

et al. 2011

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“… Involuntary, stimulus and/or action activated myoclonic jerks Generalized tonic–clonic seizures Mild neurological signs in gross motor function (e.g., clumsiness) or in coordination tests (e.g., mild dysmetria) or in walking (e.g., mild ataxia) Marked photosensitive, generalized spike‐and‐wave and polyspike‐and‐wave paroxysms in EEG (Koskiniemi et al, 1974b). The EEG background activity (BA) varies from normal to mildly slowed and remains stable over time (Ferlazzo et al, 2007). Signs of cortical and/or central atrophy in magnetic resonance imaging (MRI) of the brain or normal MRI in the beginning A gradual worsening of the neurological symptoms (myoclonus and ataxia) …”

Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

“…Marked photosensitive, generalized spike‐and‐wave and polyspike‐and‐wave paroxysms in EEG (Koskiniemi et al, 1974b). The EEG background activity (BA) varies from normal to mildly slowed and remains stable over time (Ferlazzo et al, 2007).…”

Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

Clinical picture of EPM1‐Unverricht‐Lundborg disease

et al. 2008

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“…Symptoms stabilize in adulthood with a variable degree of disability mostly due to action myoclonus, while GTCS tend to reduce after 5 to 10 years of disease 7. The main features distinguishing our family from ULD are the presence of relevant cognitive impairment and seizure persistency even during the late phase of the disease; however, EEG findings somewhat overlap with those usually found in ULD 8–10. Indeed, normal or mildly slow background activity, generalized spike and polyspike and wave discharges with a fast spike component (much less than 70 m/sec), photoparoxysmal response at IPS between 10 and 25 Hz, and burst of low voltage, spikes and polyspikes over the central and the vertex regions during sleep, are usually found in ULD; generalized epileptiform discharges, both spontaneous or induced by IPS, tend to decrease after 10 to 15 years of disease 10.…”

Section: Discussionmentioning

confidence: 99%

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

Ferlazzo

Italiano

et al. 2009

Movement Disorders

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We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.

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Long-term evolution of EEG in Unverricht-Lundborg disease

Cited by 60 publications

References 8 publications

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

Clinical picture of EPM1‐Unverricht‐Lundborg disease

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

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