NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease

2021 ◽  
Author(s):  
L. Mari ◽  
G. Comero ◽  
E. Mueller ◽  
P. Kuehnlein ◽  
A. Kehl
Keyword(s):  
Lafora Disease

PATHOGENESIS OF LAFORA DISEASE: ARE WE THERE YET?

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
BA Minassian
Keyword(s):  
Lafora Disease

Lafora disease: A report of rare entity

2017 ◽  
Author(s):  
Yosra Sghaier
Keyword(s):  
Rare Entity ◽  
Lafora Disease

scholarly journals Corrigendum to “Clinical and genetic studies in patients with Lafora disease from Pakistan”[J. Neurol. Sci. 373 (2017) 263–267]

2017 ◽  
Vol 375 ◽  
pp. 281
Author(s):  
Arsalan Ahmad ◽  
Rubina Dad ◽  
Muhammad Ikram Ullah ◽  
Tahir Ahmed Baig ◽  
Imran N. Ahmad ◽  
...  
Keyword(s):  
Lafora Disease ◽  
Genetic Studies

scholarly journals TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Cells ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 820
Author(s):  
Lorena Kumarasinghe ◽  
Lu Xiong ◽  
Maria Adelaida Garcia-Gimeno ◽  
Elisa Lazzari ◽  
Pascual Sanz ◽  
...  
Keyword(s):  
Common Ancestor ◽  
Genetic Diseases ◽  
Ubiquitin Ligases ◽  
E3 Ubiquitin Ligases ◽  
Lafora Disease ◽  
C Terminus ◽  
Rare Genetic Diseases ◽  
Tripartite Motif ◽  
Trim Proteins ◽  
Ring E3

Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.

scholarly journals Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease

Glia ◽  
2020 ◽  
Author(s):  
Eva Perez‐Jimenez ◽  
Rosa Viana ◽  
Carmen Muñoz‐Ballester ◽  
Carlos Vendrell‐Tornero ◽  
Raquel Moll‐Diaz ◽  
...  
Keyword(s):  
Glutamate Transporter ◽  
Lafora Disease ◽  
Glutamate Transporter 1

scholarly journals Retinal alterations in patients with Lafora disease

2021 ◽  
pp. 101146
Author(s):  
Heather Heitkotter ◽  
Rachel E. Linderman ◽  
Jenna A. Cava ◽  
Erica N. Woertz ◽  
Rebecca R. Mastey ◽  
...  
Keyword(s):  
Lafora Disease

scholarly journals Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease

2021 ◽  
pp. 211-217
Author(s):  
Koji Obara ◽  
Erika Abe ◽  
Itaru Toyoshima
Keyword(s):  
Single Photon ◽  
Early Stage ◽  
Photon Emission ◽  
Cerebellar Atrophy ◽  
Brain Magnetic Resonance Imaging ◽  
Emission Computed Tomography ◽  
Homozygous Mutation ◽  
Lafora Disease ◽  
Mental Deterioration ◽  
Exon 1

We report a long-lived patient with Lafora disease (LD). A 34-year-old woman experienced onset of seizures at the age of 11 years. She was bedridden in her early twenties due to frequent generalized tonic-clonic seizures, myoclonus, and progressive mental deterioration. Her seizures occurred all the time despite administration of multiple anticonvulsants at high doses. At the age of 31, she started perampanel, which resulted in reduction of anticonvulsants after her visible myoclonus and convulsions disappeared. Brain magnetic resonance imaging showed marked cerebral and cerebellar atrophy, and single-photon emission computed tomography using N-isopropyl-p-[123I] iodoamphetamine (IMP-SPECT) revealed significant hypoperfusion of the frontal lobe and cerebellum. We identified a W219R homozygous mutation in exon 1 of the NHLRC1 gene. Because perampanel may not only control seizures but also prevent mental deterioration in LD, we propose that perampanel should be administered from the early stage of LD.

scholarly journals Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

2021 ◽  
Author(s):  
Emrah Gumusgoz ◽  
Dikran R Guisso ◽  
Sahba Kasiri ◽  
Jun Wu ◽  
Matthew Dear ◽  
...  
Keyword(s):  
Mouse Models ◽  
Lafora Disease ◽  
Polyglucosan Bodies ◽  
Polyglucosan Body

Glucose metabolism evaluated by positron emission tomography in Lafora disease

1999 ◽  
Vol 41 (6) ◽  
pp. 689-692 ◽  
Author(s):  
ZENICHIRO Kato ◽  
KANJI Yasuda ◽  
KAZUNARI Ishii ◽  
HAJIME Takagi ◽  
SHINJI Mizuno ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Glucose Metabolism ◽  
Emission Tomography ◽  
Lafora Disease ◽  
Positron Emission

Lafora disease: Current biology and therapeutic approaches

2021 ◽  
Author(s):  
S. Mitra ◽  
E. Gumusgoz ◽  
B.A. Minassian
Keyword(s):  
Lafora Disease ◽  
Therapeutic Approaches
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