scholarly journals Screening for C9orf72 repeat expansions in parkinsonian syndromes

2013 ◽  
Vol 34 (4) ◽  
pp. 1311.e3-1311.e4 ◽  
Author(s):  
Tu-Hsueh Yeh ◽  
Szu-Chia Lai ◽  
Yi-Hsin Weng ◽  
Hung-Chou Kuo ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Parkinsonian Syndromes ◽  
Repeat Expansions

scholarly journals Differentiating PSP from MSA using MR planimetric measurements: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Beatrice Heim ◽  
Florian Krismer ◽  
Klaus Seppi
Keyword(s):  
Sensitivity And Specificity ◽  
Meta Analysis ◽  
Risk Of Bias ◽  
Index Test ◽  
Study Quality ◽  
Parkinsonian Syndromes ◽  
Quantitative Mr ◽  
Meta Analyses ◽  
Planimetric Measurements

AbstractDifferential diagnosis of parkinsonian syndromes is considered one of the most challenging in neurology. Quantitative MR planimetric measurements were reported to discriminate between progressive supranuclear palsy (PSP) and non-PSP-parkinsonism. Several studies have used midbrain to pons ratio (M/P) and the Magnetic Resonance Parkinsonism Index (MRPI) in distinguishing PSP patients from those with Parkinson's disease. The current meta-analysis aimed to compare the performance of these measures in discriminating PSP from multiple system atrophy (MSA). A systematic MEDLINE review identified 59 out of 2984 studies allowing a calculation of sensitivity and specificity using the MRPI or M/P. Meta-analyses of results were carried out using random effects modelling. To assess study quality and risk of bias, the QUADAS-2 tool was used. Eight studies were suitable for analysis. The meta‐analysis showed a pooled sensitivity and specificity for the MRPI of PSP versus MSA of 79.2% (95% CI 72.7–84.4%) and 91.2% (95% CI 79.5–96.5%), and 84.1% (95% CI 77.2–89.2%) and 89.2% (95% CI 81.8–93.8%), respectively, for the M/P. The QUADAS-2 toolbox revealed a high risk of bias regarding the methodological quality of patient selection and index test, as all patients were seen in a specialized outpatient department without avoiding case control design and no predefined threshold was given regarding MRPI or M/P cut-offs. Planimetric brainstem measurements, in special the MRPI and M/P, yield high diagnostic accuracy for the discrimination of PSP from MSA. However, there is an urgent need for well-designed, prospective validation studies to ameliorate the concerns regarding the risk of bias.

scholarly journals Impact of the cerebrospinal fluid-mask algorithm on the diagnostic performance of 123I-Ioflupane SPECT: an investigation of parkinsonian syndromes

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yu Iwabuchi ◽  
Tadaki Nakahara ◽  
Masashi Kameyama ◽  
Yohji Matsusaka ◽  
Yasuhiro Minami ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Diagnostic Performance ◽  
Parkinsonian Syndromes

scholarly journals Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110361
Author(s):  
Ashley A. Moeller ◽  
Marcia V. Felker ◽  
Jennifer A. Brault ◽  
Laura C. Duncan ◽  
Rizwan Hamid ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Huntington Disease ◽  
Early Onset ◽  
Trinucleotide Repeat ◽  
Cerebellar Atrophy ◽  
Cag Repeats ◽  
Ataxic Gait ◽  
Repeat Expansions ◽  
Delays In Diagnosis ◽  
Juvenile Huntington Disease

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.

Lower urinary tract dysfunction in Parkinsonian syndromes

2021 ◽  
Author(s):  
Ekawat Vichayanrat ◽  
Claire Hentzen ◽  
Amit Batla ◽  
Sara Simeoni ◽  
Valeria Iodice ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Lower Urinary Tract ◽  
Lower Urinary Tract Dysfunction ◽  
Parkinsonian Syndromes ◽  
Lower Urinary

scholarly journals PET Imaging of Astrogliosis and Tau Facilitates Diagnosis of Parkinsonian Syndromes

2019 ◽  
Vol 11 ◽  
Author(s):  
Sonja Schönecker ◽  
Matthias Brendel ◽  
Carla Palleis ◽  
Leonie Beyer ◽  
Günter U. Höglinger ◽  
...  
Keyword(s):  
Pet Imaging ◽  
Parkinsonian Syndromes

scholarly journals REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data

2020 ◽  
Author(s):  
Russell Lewis McLaughlin
Keyword(s):  
Structural Variation ◽  
Sequence Data ◽  
Neurological Diseases ◽  
Repeat Expansion ◽  
Sequencing Data ◽  
Short Read ◽  
Short Read Sequencing ◽  
Repeat Expansions ◽  
Paired End Sequencing

Abstract Motivation Repeat expansions are an important class of genetic variation in neurological diseases. However, the identification of novel repeat expansions using conventional sequencing methods is a challenge due to their typical lengths relative to short sequence reads and difficulty in producing accurate and unique alignments for repetitive sequence. However, this latter property can be harnessed in paired-end sequencing data to infer the possible locations of repeat expansions and other structural variation. Results This article presents REscan, a command-line utility that infers repeat expansion loci from paired-end short read sequencing data by reporting the proportion of reads orientated towards a locus that do not have an adequately mapped mate. A high REscan statistic relative to a population of data suggests a repeat expansion locus for experimental follow-up. This approach is validated using genome sequence data for 259 cases of amyotrophic lateral sclerosis, of which 24 are positive for a large repeat expansion in C9orf72, showing that REscan statistics readily discriminate repeat expansion carriers from non-carriers. Availabilityand implementation C source code at https://github.com/rlmcl/rescan (GNU General Public Licence v3).

The neuropathology associated with repeat expansions in the C9ORF72 gene

2013 ◽  
Vol 127 (3) ◽  
pp. 347-357 ◽  
Author(s):  
Ian R. A. Mackenzie ◽  
Petra Frick ◽  
Manuela Neumann
Keyword(s):  
Repeat Expansions ◽  
C9orf72 Gene
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