The neuropsychological pattern of Unverricht–Lundborg disease

Giovagnoli, Anna Rita; Canafoglia, Laura; Reati, Fabiola; Raviglione, Federico; Franceschetti, Silvana

doi:10.1016/j.eplepsyres.2009.02.004

Cited by 26 publications

(26 citation statements)

References 20 publications

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“…Further reasons for exclusion were number of patients <10 (n = 16), language examination only following epilepsy surgery (n = 13), reports of the same dataset (n = 6), linguistic deficits defined as exclusion criteria (n = 5), no original data (n = 11), and no description of the results of language examination (n = 8). Finally, 31 studies were identified that matched inclusion criteria …”

Section: Resultsmentioning

confidence: 99%

The interictal language profile in adult epilepsy

Bartha‐Doering

Trinka

2014

Epilepsia

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SUMMARYObjective: The purpose of this study was to systematically review the literature on the interictal language profile in adult patients with epilepsy. Methods: An extensive literature search was performed using MEDLINE, Embase, PsycINFO, Cochrane Central Register of Controlled Trials, PASCAL, and PSYNDEXplus databases. Key aspects of inclusion criteria were adult patients with epilepsy, patient number >10, and in-depth qualitative investigations of a specific language modality or administration of tests of at least two different language modalities, including comprehension, naming, repetition, reading, writing, and spontaneous speech. Results: Our search strategy yielded 933 articles on epilepsy and language. Of these, 31 met final eligibility criteria. Most included articles focused on temporal lobe epilepsy; only three studies were interested in the language profile of patients with idiopathic generalized epilepsies, and one study on frontal lobe epilepsy met inclusion criteria. Study results showed a pronounced heterogeneity of language abilities in patients with epilepsy, varying from intact language profiles to impairment in several language functions. However, at least 17% of patients displayed deficits in more than one language function, with naming, reading comprehension, spontaneous speech, and discourse production being most often affected. Significance: This review underscores the need to evaluate different language functions-including spontaneous speech, discourse abilities, naming, auditory and reading comprehension, reading, writing, and repetition-individually in order to obtain a reliable profile of language functioning in patients with epilepsy. Moreover, our findings show that in contrast to the huge scientific interest of memory functions in epilepsy, the examination of language functions so far played a minor role in epilepsy research, emphasizing the need for future research activities in this field.

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Section: Resultsmentioning

confidence: 99%

The interictal language profile in adult epilepsy

Bartha‐Doering

Trinka

2014

Epilepsia

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“…The marked mental impairment was also atypical (Ferlazzo et al., 2009; Giovagnoli et al., 2009; Genton, 2010) and often associated with important psychiatric symptoms. The association between EPM1A and deafness‐mutism in one patient is unclear, although it is interesting that congenital deafness was an associated sign attributed to TMPRSS3 gene deletion in members of a Serbian family with EPM1A and a common expansion mutation (Kecmanović et al., 2009).…”

Section: Discussionmentioning

confidence: 99%

“…The symptoms progress during the first 5–10 years and then tend to stabilize, although about one third of patients develop severe motor disability (Kälviäinen et al., 2008), mainly due to action myoclonus. Cognitive impairment may be present, but is usually mild (Ferlazzo et al., 2009; Giovagnoli et al., 2009; Genton, 2010). Previous clinical descriptions of case series of patients with EPM1A principally refer to subjects with homozygous repeat mutations, but a recent description of five compound heterozygous patients with c.202C>T mutations indicates a more severe phenotype than that typically observed in homozygotes for the expansion mutation (Koskenkorva et al., 2011).…”

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confidence: 99%

Electroclinical presentation and genotype–phenotype relationships in patients with Unverricht‐Lundborg disease carrying compound heterozygous CSTB point and indel mutations

et al. 2012

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SUMMARYPurpose: Unverricht-Lundborg disease (EPM1A) is frequently due to an unstable expansion of a dodecamer repeat in the CSTB gene, whereas other types of mutations are rare. EPM1A due to homozygous expansion has a rather stereotyped presentation with prominent action myoclonus. We describe eight patients with five different compound heterozygous CSTB point or indel mutations in order to highlight their particular phenotypical presentations and evaluate their genotype-phenotype relationships. Methods: We screened CSTB mutations by means of Southern blotting and the sequencing of the genomic DNA of each proband. CSTB messenger RNA (mRNA) aberrations were characterized by sequencing the complementary DNA (cDNA) of lymphoblastoid cells, and assessing the protein concentrations in the lymphoblasts. The patient evaluations included the use of a simplified myoclonus severity rating scale, multiple neurophysiologic tests, and electroencephalography (EEG)-polygraphic recordings. To highlight the particular clinical features and disease time-course in compound heterozygous patients, we compared some of their characteristics with those observed in a series of 40 patients carrying the common homozygous expansion mutation observed at the C.

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“…Ataxia is prominent in periods with intense myoclonus, but may abate if myoclonus is controlled. There is no progression toward dementia, although neuropsychological impairment may be present and may increase slightly over the years (Ferlazzo et al., 2009; Giovagnoli et al., 2009). The long‐term is characterized by limited worsening after the first 5–10 years (Magaudda et al., 2006) (Fig.…”

Section: Clinical and Neurophysiological Characteristicsmentioning

confidence: 99%

Unverricht‐Lundborg disease (EPM1)

Genton

2010

Epilepsia

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The neuropsychological pattern of Unverricht–Lundborg disease

Cited by 26 publications

References 20 publications

The interictal language profile in adult epilepsy

The interictal language profile in adult epilepsy

Electroclinical presentation and genotype–phenotype relationships in patients with Unverricht‐Lundborg disease carrying compound heterozygous CSTB point and indel mutations

Unverricht‐Lundborg disease (EPM1)

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