Familial Unverricht‐Lundborg Disease: A Clinical, Neurophysiologic, and Genetic Study

Parmeggiani, Antonia; Lehesjoki, Anna Elina; Carelli, Valerio; Posar, Annio; Santi, Andrea; Santucci, Margherita; Gobbi, Giuseppe; Pini, Antonella; Rossi, P.

doi:10.1111/j.1528-1157.1997.tb01232.x

Cited by 13 publications

(8 citation statements)

References 11 publications

(8 reference statements)

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“…We observed similar phenomena in our series, but generalized myoclonus was noted in 13 patients. The clinical features of MERRF and probable ULD in our large cohort were similar to those reported in literature [1,[27][28][29][30].…”

Section: Clinical Manifestationssupporting

confidence: 76%

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

Sinha

Satishchandra

Gayathri

et al. 2007

Journal of the Neurological Sciences

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Section: Clinical Manifestationssupporting

confidence: 76%

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

Sinha

Satishchandra

Gayathri

et al. 2007

Journal of the Neurological Sciences

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“…Previous imaging studies of EPM1 patients have demonstrated atrophic changes in GM and WM in several brain regions, most notably in the cortices and the thalamus [8], [9], [17]–[20]. The diversity in anti-epileptic drug treatments, as well as the heterogeneity of the studied patient groups in terms of age, gender and disease duration have made interpretation of the patient data difficult and thus the existing reports offer only a limited view of EPM1 pathology.…”

Section: Discussionmentioning

confidence: 99%

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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“…For example, one village in Southern Italy, San Vito dei Normanni, was founded by Vikings. ULD patients originating from this village have been identified, and found to harbour the Baltic haplotype, which was probably carried by Vikings (Parmeggiani et al 1997).…”

Section: Discussionmentioning

confidence: 99%

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

et al. 2002

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Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight markers flanking CSTB(GT10-D21S1890-D21S1885-D21S2040-D21S1259- CSTB-D21S1912-PFKL-D21S171) and one intragenic variant in the CSTB 3' UTR (A2575G). We observed a founder effect in most of the NA ULD patients, as 61.7% of the NA ULDc (29/47) shared the same haplotype, A1 (1-1-A-1-6-7), for markers D21S1885-D21S2040-A2575G-D21S1259-D21S1912-PFKL. Moreover, if we considered only the markers D21S1885, D21S2040, A2575G and D21S1259, 43 of the 47 NA ULDc shared the same alleles 1-1-A-1, haplotype A. As previously shown, the WEC ULDc were heterogeneous. However, the Baltic haplotype, A3 (5-1-1-A-1-1), was observed in ten WEC ULDc (20.8%) and the CSTB 3'UTR variant, which we called the Alps variant, was observed in 17 ULDc (35.4%). Finally, as almost all NA patients, like Scandinavian patients, were of the haplotype A, we assumed that there was an ancient common founder effect in NA and Baltic ULD patients. We estimated that the putative most recent common ancestral ULD carrier with this haplotype A must have existed about 2,500 years ago (100-150 generations). Finally, this work provides evidence for the existence of only a small number of founder mutations in ULD.

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Familial Unverricht‐Lundborg Disease: A Clinical, Neurophysiologic, and Genetic Study

Cited by 13 publications

References 11 publications

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

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

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

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