Next generation sequencing for rapid diagnosis of a rare early onset spastic paraplegia: A novel pathological variant in FA2H gene

2018 ◽  
Vol 11 (4) ◽  
pp. 222-226
Author(s):  
M. Cristina González-González ◽  
Miriam Gutierrez ◽  
Cristina Castaño de la Mota ◽  
Nuria Muñoz Jareño ◽  
Severino Gonzalez ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Early Onset ◽  
Rapid Diagnosis ◽  
Next Generation ◽  
Spastic Paraplegia ◽  
Pathological Variant ◽  
Generation Sequencing

scholarly journals Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence

Brain ◽  
2019 ◽  
Vol 143 (3) ◽  
pp. 751-770 ◽  
Author(s):  
Hugo Morales-Briceño ◽  
Shekeeb S Mohammad ◽  
Bart Post ◽  
Alessandro F Fois ◽  
Russell C Dale ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Movement Disorders ◽  
Early Onset ◽  
Genetic Disorders ◽  
Phenotypic Characterization ◽  
Imaging Features ◽  
Next Generation ◽  
Phenotypic Spectrum ◽  
Inherited Mutations ◽  
Generation Sequencing

Abstract Genetic early-onset parkinsonism presenting from infancy to adolescence (≤21 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is genetically heterogeneous, with many causative genes already known. With the increased use of next-generation sequencing in clinical practice, there have been novel and unexpected insights into phenotype-genotype correlations and the discovery of new disease-causing genes. It is now recognized that mutations in a single gene can give rise to a broad phenotypic spectrum and that, conversely different genetic disorders can manifest with a similar phenotype. Accurate phenotypic characterization remains an essential step in interpreting genetic findings in undiagnosed patients. However, in the past decade, there has been a marked expansion in knowledge about the number of both disease-causing genes and phenotypic spectrum of early-onset cases. Detailed knowledge of genetic disorders and their clinical expression is required for rational planning of genetic and molecular testing, as well as correct interpretation of next-generation sequencing results. In this review we examine the relevant literature of genetic parkinsonism with ≤21 years onset, extracting data on associated movement disorders as well as other neurological and imaging features, to delineate syndromic patterns associated with early-onset parkinsonism. Excluding PRKN (parkin) mutations, >90% of the presenting phenotypes have a complex or atypical presentation, with dystonia, abnormal cognition, pyramidal signs, neuropsychiatric disorders, abnormal imaging and abnormal eye movements being the most common features. Furthermore, several imaging features and extraneurological manifestations are relatively specific for certain disorders and are important diagnostic clues. From the currently available literature, the most commonly implicated causes of early-onset parkinsonism have been elucidated but diagnosis is still challenging in many cases. Mutations in ∼70 different genes have been associated with early-onset parkinsonism or may feature parkinsonism as part of their phenotypic spectrum. Most of the cases are caused by recessively inherited mutations, followed by dominant and X-linked mutations, and rarely by mitochondrially inherited mutations. In infantile-onset parkinsonism, the phenotype of hypokinetic-rigid syndrome is most commonly caused by disorders of monoamine synthesis. In childhood and juvenile-onset cases, common genotypes include PRKN, HTT, ATP13A2, ATP1A3, FBX07, PINK1 and PLA2G6 mutations. Moreover, Wilson’s disease and mutations in the manganese transporter are potentially treatable conditions and should always be considered in the differential diagnosis in any patient with early-onset parkinsonism.

scholarly journals O1-04-06: NEXT-GENERATION SEQUENCING GENE DISCOVERY STUDIES IN EARLY-ONSET DEMENTIA

2014 ◽  
Vol 10 ◽  
pp. P136-P136
Author(s):  
Julie van der Zee ◽  
Lubina Dillen ◽  
Nicole Ziliotto ◽  
William Deschamps ◽  
Christine Van Broeckhoven ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Early Onset ◽  
Gene Discovery ◽  
Next Generation ◽  
Early Onset Dementia ◽  
Generation Sequencing

Evaluation of genetic load in early-onset Parkinson's disease patients by next-generation sequencing

2016 ◽  
Vol 22 ◽  
pp. e169
Author(s):  
Agostino Seresini ◽  
Tiziana Brambilla ◽  
Chiara Siri ◽  
Giorgio Sacilotto ◽  
Michela Zini ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Next Generation Sequencing ◽  
Early Onset ◽  
Genetic Load ◽  
Next Generation ◽  
Generation Sequencing ◽  
Early Onset Parkinson’S Disease

scholarly journals Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Neurogenetics ◽  
2019 ◽  
Vol 20 (1) ◽  
pp. 27-38 ◽  
Author(s):  
Ewelina Elert-Dobkowska ◽  
Iwona Stepniak ◽  
Wioletta Krysa ◽  
Karolina Ziora-Jakutowicz ◽  
Maria Rakowicz ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Next Generation ◽  
Spastic Paraplegia ◽  
Generation Sequencing

scholarly journals A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing

2019 ◽  
Vol 34 (4) ◽  
pp. 506-515 ◽  
Author(s):  
Chin-Hsien Lin ◽  
Pei-Lung Chen ◽  
Chun-Hwei Tai ◽  
Hang-I Lin ◽  
Chih-Shan Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Study ◽  
Early Onset ◽  
Gene Dosage ◽  
Integrated Approach ◽  
Next Generation ◽  
Generation Sequencing

A new tool based on next generation sequencing for an efficient and rapid diagnosis of familial hypercholesterolemia

2014 ◽  
Vol 235 (2) ◽  
pp. e57
Author(s):  
M.J. Illescas ◽  
L. Palacios ◽  
D. Arteta ◽  
N. Aizpuru ◽  
A. Martinez ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Familial Hypercholesterolemia ◽  
Rapid Diagnosis ◽  
Next Generation ◽  
Generation Sequencing
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