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(Kufs disease)
2,095 results
  • Pharmacological approaches to tackle NCLs. [Journal Article]
    Biochim Biophys Acta Mol Basis Dis 2019; :165553Kauss V, Dambrova M, Medina DL
  • Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. They are characterized by the accumulation of lysosomal storage material and progressive neurological deterioration with dementia, epilepsy, retinopathy, motor disturbances, and early death [1]. Although the identification of diseas…
  • Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. [Journal Article]
    Mol Genet Genomic Med 2019; :e968Wang J, Zhang Q, … Bao X
  • CONCLUSIONS: It is the first time that pathogenic variants of GRIN1 and KIF1A were linked to RTT and Rett-like profiles. Our findings expanded the genetic heterogeneity of Chinese RTT or Rett-like patients, and also suggest that some patients with genetic metabolic disease such as NCL, might displayed Rett features initially, and clinical follow-up is essential for the diagnosis.
  • Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. [Journal Article]
    Dev Med Child Neurol 2019Dozières-Puyravel B, Nasser H, … Auvin S
  • Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (in…
  • The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. [Review]
    Seizure 2019; 71:247-257Orsini A, Valetto A, … Striano P
  • Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start w…
  • An Italian multicentre study of perampanel in progressive myoclonus epilepsies. [Journal Article]
    Epilepsy Res 2019; 156:106191Canafoglia L, Barbella G, … Franceschetti S
  • Perampanel (PER) is a novel anti-seizure medication useful in different types of epilepsy. We intended to assess the effectiveness of PER on cortical myoclonus and seizure frequency in patients with progressive myoclonus epilepsy (PME), using quantitative validated scales. Forty-nine patients aged 36.6 ± 15.6 years with PME of various aetiology (18 EPM1, 12 EPM2, five with sialidosis, one with Ku…
  • Positron Emission Tomography in Pediatric Neurodegenerative Disorders. [Review]
    Pediatr Neurol 2019Chugani HT
  • Application of molecular neuroimaging using positron emission tomographic techniques to assess pediatric neurodegenerative disorders has been limited, unlike in adults where positron emission tomography has contributed to clinical diagnosis, monitoring of neurodegenerative disease progression, and assessment of novel therapeutic approaches. Yet, there is a huge unexplored potential of molecular i…
  • Gene-Based Approaches to Inherited Neurometabolic Diseases. [Journal Article]
    Hum Gene Ther 2019; 30(10):1222-1235Poletti V, Biffi A
  • In the last decade, the gene therapy (GT) field experienced a renaissance, thanks to crucial understandings and innovations in vector design, stem cell manipulation, conditioning protocols, and cell/vector delivery. These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology and with the novel establishment of academic-industr…
  • Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. [Journal Article]
    Ann Neurol 2019; 86(5):729-742El-Sitt S, Soueid J, … Boustany RM
  • CONCLUSIONS: Galactosylceramide improved behavioral, neuropathological, and biochemical parameters in Cln3 Δex7/8 mice, paving the way for effective therapy for CLN3 disease and use of serum ceramide as a potential biomarker to track impact of therapies. ANN NEUROL 2019;86:729-742.
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