Carbamazepine responsive epileptic oral motor and ocular motor apraxia

Naqvi, Sayed; Greenwood, Robert; D’Cruz, O’Neill F.

doi:10.1212/wnl.50.5.1475

Cited by 1 publication

(1 citation statement)

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“…However, this does not rule out the possibility that paroxysmal EEG discharges may exacerbate impairment in speech motor praxis. Evidence supporting the latter hypothesis, although sparse, is conflicting: speech metrics can be worsened by antiepileptic drug (AED) treatment (Park et al 2005), while oromotor apraxia may be improved by AED treatment (Naqvi et al 1998). Both traits also seem to remit spontaneously – SSD later in the first decade, and CTS at adolescence – suggesting a maturational, and possibly sequential, disturbance in speech motor circuits that may either resolve over childhood or be compensated through long‐term neural plasticity (Doose et al 2000).…”

Section: Discussionmentioning

confidence: 99%

Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves

Pal

Clarke

et al. 2010

Genes Brain and Behavior

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We recently showed genomewide linkage of centrotemporal sharp waves (CTS) in classic Rolandic epilepsy (RE) families to chromosome 11p13, and fine-mapped this locus to variants in the ELP4 gene. Speech sound disorder (SSD) is a common comorbidity in RE subjects, of unknown etiology, which co-aggregates in family members in a manner that could hypothetically be explained by shared underlying genetic risk with CTS. Furthermore, the neural mechanism of SSD is unknown, although individuals with rare, Mendelian forms of RE are described with severe verbal and oromotor apraxia. We therefore first performed genomewide linkage analysis for SSD, operationally defined as clinical history consistent with ICD-10 speech articulation disorder, in 38 families singly ascertained through a proband with RE. We tested the hypothesis of shared genetic risk with CTS at the 11p13 locus. In the second part of the study we used computerized acoustic analysis of recorded speech to test the hypothesis of dyspraxia as a mechanism for SSD in a smaller subset of RE probands and relatives. In two-point and multipoint LOD score analysis, we found that evidence for linkage to the 11p13 locus increased substantially when the phenotype was broadened from CTS to CTS/SSD. In multipoint analysis, the LOD score rose by 3.2 to HLOD 7.54 at D11S914 for CTS/SSD, the same marker at which multipoint linkage maximized for CTS alone. Non-parametric, affected-only methods in a sub-set of the data provide further confirmatory evidence for pleiotropy. In acoustic analysis there were voice-onset time abnormalities in 10/18 RE probands, 8/16 siblings and 5/15 parents, providing evidence of breakdown in the spatial/temporal properties of speech articulation consistent with a dyspraxic mechanism. The results from genetic and physiological studies suggest a pleiotropic role for the 11p13 locus in the development of both SSD and CTS, and also indicate a dyspraxic mechanism for the SSD linked to 11p13. Taken together, these data strongly support a neurodevelopmental origin for classic RE.

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Section: Discussionmentioning

confidence: 99%