Sleep alterations in juvenile neuronal ceroid-lipofuscinosis

Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep

“…Our findings of decreased non-REM EEG amplitudes in Batten disease affected sheep are consistent with those reported from patients with the juvenile form of Batten disease, who display a relative increase in the percentage of sleep spent in stage 1 slow-wave sleep while overall sleep quantity is reduced (Kirveskari et al , 2000). Mean age differences between normal and CLN5 Batten disease affected sheep are unlikely to account for the observation of reduced non-REM EEG amplitudes.…”

A clinical rating scale for Batten disease

“…1,2 Juvenile NCL (JNCL; NCL3, BattenSpielmeyer-Vogt disease), the most prevalent subtype, is characterized by progressive visual loss between 4 and 8 years of age, seizures, psychomotor decline, and behavioral abnormalities, with death occurring in the second or third decade of life. [3][4][5] A number of studies have focused on specific clinical features [6][7][8][9][10][11][12][13][14][15][16] or correlated such features with molecular, pathologic, or imaging characteristics. [17][18][19][20][21][22][23] Therapeutic studies have targeted specific symptoms rather than overall disease progression.…”

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

“…13,46 In a series of 60 patients with JNCL, valproic acid (VPA) was withdrawn in 20% and clonazepam (CZP) in 16% because of side effects. 48 Lamotrigine (LTG), a promising new AED, had a favorable effect on 23 of 28 patients, 13 of 19 being continued on monotherapy with 100% control compared with 70% control for those receiving VPA, 60% control for VPA-CZP, and 60% control for LTG-CZP. 48 Lamotrigine (LTG), a promising new AED, had a favorable effect on 23 of 28 patients, 13 of 19 being continued on monotherapy with 100% control compared with 70% control for those receiving VPA, 60% control for VPA-CZP, and 60% control for LTG-CZP.…”

“…48 Lamotrigine (LTG), a promising new AED, had a favorable effect on 23 of 28 patients, 13 of 19 being continued on monotherapy with 100% control compared with 70% control for those receiving VPA, 60% control for VPA-CZP, and 60% control for LTG-CZP. The pharmacologic differences between NCL and other neurodegenerative disorders and static encephalopathies, suggested by worsening or intolerance to many generally useful AED and probably other medications not yet identified, must be recognized and studied at the molecular level 13,45,47,48 (see the table; http://www.ucl.ac.uk/ncl). Although benzodiazepines were studied extensively in the 1960s, this information is no longer easily available.…”