scholarly journals Characteristic “Forcible” Geste Antagoniste in Oromandibular Dystonia Resulting From Pantothenate Kinase-Associated Neurodegeneration

2014 ◽  
Vol 1 (2) ◽  
pp. 112-114 ◽  
Author(s):  
Igor N. Petrović ◽  
Nikola Kresojević ◽  
Christos Ganos ◽  
Marina Svetel ◽  
Nataša Dragašević ◽  
...  
Keyword(s):  
Oromandibular Dystonia ◽  
Pantothenate Kinase ◽  
Geste Antagoniste

Cefixime-induced Oromandibular Dystonia in an Adult: A Case Report

2017 ◽  
Vol 12 (2) ◽  
Author(s):  
Lisa Mondet ◽  
Fanny Radoube ◽  
Valerie Gras ◽  
Kamel Masmoudi
Keyword(s):  
Case Report ◽  
Oromandibular Dystonia

Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration

2021 ◽  
Author(s):  
Nivedita Thakur ◽  
Thomas Klopstock ◽  
Suzanne Jackowski ◽  
Enej Kuscer ◽  
Fernando Tricta ◽  
...  
Keyword(s):  
Rational Design ◽  
Novel Therapies ◽  
Pantothenate Kinase

Capecitabine-induced oromandibular dystonia: A case report and literature review

2008 ◽  
Vol 47 (6) ◽  
pp. 1161-1165 ◽  
Author(s):  
Joanne Y. Y. Ngeow ◽  
Kumar M. Prakash ◽  
Balram Chowbay ◽  
Swee Tian Quek ◽  
Su-Pin Choo
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Oromandibular Dystonia

Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

2014 ◽  
Vol 87 (1) ◽  
pp. 93-95 ◽  
Author(s):  
L.-Y. Ma ◽  
L. Wang ◽  
Y.-M. Yang ◽  
Y. Lu ◽  
F.-B. Cheng ◽  
...  
Keyword(s):  
Clinical Features ◽  
Gene Mutations ◽  
Pantothenate Kinase ◽  
Novel Gene

fumble Encodes a Pantothenate Kinase Homolog Required for Proper Mitosis and Meiosis in Drosophila melanogaster

Genetics ◽  
2001 ◽  
Vol 157 (3) ◽  
pp. 1267-1276
Author(s):  
Katayoun Afshar ◽  
Pierre Gönczy ◽  
Stephen DiNardo ◽  
Steven A Wasserman
Keyword(s):  
Cell Division ◽  
Chromosome Segregation ◽  
Cell Division Cycle ◽  
Protein Isoforms ◽  
Pantothenate Kinase ◽  
Male Germline ◽  
Dividing Cells ◽  
Mutant Cells ◽  
Mitosis And Meiosis

Abstract A number of fundamental processes comprise the cell division cycle, including spindle formation, chromosome segregation, and cytokinesis. Our current understanding of these processes has benefited from the isolation and analysis of mutants, with the meiotic divisions in the male germline of Drosophila being particularly well suited to the identification of the required genes. We show here that the fumble (fbl) gene is required for cell division in Drosophila. We find that dividing cells in fbl-deficient testes exhibit abnormalities in bipolar spindle organization, chromosome segregation, and contractile ring formation. Cytological analysis of larval neuroblasts from null mutants reveals a reduced mitotic index and the presence of polyploid cells. Molecular analysis demonstrates that fbl encodes three protein isoforms, all of which contain a domain with high similarity to the pantothenate kinases of A. nidulans and mouse. The largest Fumble isoform is dispersed in the cytoplasm during interphase, concentrates around the spindle at metaphase, and localizes to the spindle midbody at telophase. During early embryonic development, the protein localizes to areas of membrane deposition and/or rearrangement, such as the metaphase and cellularization furrows. Given the role of pantothenate kinase in production of Coenzyme A and in phospholipid biosynthesis, this pattern of localization is suggestive of a role for fbl in membrane synthesis. We propose that abnormalities in synthesis and redistribution of membranous structures during the cell division cycle underlie the cell division defects in fbl mutant cells.

scholarly journals A therapeutic approach to pantothenate kinase associated neurodegeneration

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Lalit Kumar Sharma ◽  
Chitra Subramanian ◽  
Mi-Kyung Yun ◽  
Matthew W. Frank ◽  
Stephen W. White ◽  
...  
Keyword(s):  
Therapeutic Approach ◽  
Pantothenate Kinase

scholarly journals All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report

2016 ◽  
Vol 10 (3) ◽  
pp. 251-253 ◽  
Author(s):  
Raquel Quimas Molina da Costa ◽  
Rogério Paysano Marrocos ◽  
Marco Antonio Araujo Leite ◽  
Fabio Henrique Gobbi Porto
Keyword(s):  
Case Report ◽  
Tourette Syndrome ◽  
Poor Response ◽  
Extrapyramidal Symptoms ◽  
Response To Treatment ◽  
Pantothenate Kinase ◽  
Atypical Form ◽  
Psychiatric Problems ◽  
Vocal Tics

ABSTRACT The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

Neurology ◽  
2002 ◽  
Vol 58 (11) ◽  
pp. 1673-1674 ◽  
Author(s):  
K. H.L. Ching ◽  
S. K. Westaway ◽  
J. Gitschier ◽  
J. J. Higgins ◽  
S. J. Hayflick
Keyword(s):  
Pantothenate Kinase
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