scholarly journals A Benchmark Study on the Correlation of CAG Trinucleotide Repeat Length with SARA Score, Age of Onset and Disease Duration of Genetically-positive Spinocerebellar Ataxia 2 Filipino Family

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Matibag Jessica Leika R ◽  
Uematsu Eri ◽  
Diesta Cid Czarina
Keyword(s):  
Spinocerebellar Ataxia ◽  
Disease Duration ◽  
Trinucleotide Repeat ◽  
Age Of Onset ◽  
Repeat Length ◽  
Benchmark Study ◽  
Spinocerebellar Ataxia 2

scholarly journals Serum neurofilament light chain as a severity marker for spinocerebellar ataxia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Hye-Rim Shin ◽  
Jangsup Moon ◽  
Woo-Jin Lee ◽  
Han Sang Lee ◽  
Eun Young Kim ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Disease Duration ◽  
Trinucleotide Repeat ◽  
Neuronal Damage ◽  
Demographic Data ◽  
Brain Magnetic Resonance Imaging ◽  
Clinical Severity ◽  
P Value ◽  
Repeat Number ◽  
Neurofilament Light

AbstractSince the serum neurofilament light (NfL) chain is known as a promising biomarker in neurodegenerative diseases, we aimed to evaluate serum NfL as a biomarker indicating neuronal damage in autosomal-dominant (AD) spinocerebellar ataxia (SCA). We reviewed patients diagnosed with AD SCA in the outpatient clinic of Seoul National University Hospital’s (SNUH) Department of Neurology between May and August of 2019. We reviewed the demographic data, clinical characteristics, Scale for the Assessment and Rating of Ataxia (SARA) score, and brain magnetic resonance imaging (MRI) scans. The serum NfL was measured by electrochemiluminescence (ECL) immunoassay. Forty-nine patients with AD SCA were reviewed and their serum NfL level was determined. The median serum NfL level (109.5 pg/mL) was higher than control (41.1 pg/mL) (p-value < 0.001). Among the AD SCA patients, there was a positive correlation between the serum NfL level and the trinucleotide repeat number (r = 0.47, p-value = 0.001), disease duration (r = 0.35, p-value = 0.019), disease duration/age × trinucleotide repeat number (r = 0.330, p-value = 0.021), and SARA score (n = 33; r = 0.37, p-value = 0.033). This study shows that serum NfL is elevated in AD SCA patients and correlates with clinical severity.

Trinucleotide repeat length instability and age of onset in Huntington's disease

1993 ◽  
Vol 4 (4) ◽  
pp. 387-392 ◽  
Author(s):  
M. Duyao ◽  
C. Ambrose ◽  
R. Myers ◽  
A. Novelletto ◽  
F. Persichetti ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Trinucleotide Repeat ◽  
Age Of Onset ◽  
Repeat Length

scholarly journals Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

2011 ◽  
Vol 69 (2b) ◽  
pp. 292-296 ◽  
Author(s):  
S T Camargos ◽  
W Marques-Jr ◽  
A C Santos
Keyword(s):  
Brain Stem ◽  
Spinocerebellar Ataxia ◽  
Disease Duration ◽  
Volumetric Analysis ◽  
Repeat Length ◽  
Cag Repeat ◽  
Clinical Severity ◽  
Cag Repeats ◽  
Spinocerebellar Ataxia Type ◽  
Machado Joseph Disease

Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum and brainstem with age and CAG repeats, although no such correlation has been found with disease duration and clinical manifestations. In this study we test the hypothesis that atrophy of cerebellum and brainstem in MJD/SCA3 is related to clinical severity, disease duration and CAG repeat length as well as to other variables such as age and ICARS (International Cooperative Ataxia Rating Scale). Whole brain high resolution MRI and volumetric measurement with cranial volume normalization were obtained from 15 MJD/SCA3 patients and 15 normal, age and sex-matchedcontrols. We applied ICARS and compared the score with volumes and CAG number, disease duration and age. We found significant correlation of both brain stem and cerebellar atrophy with CAG repeat length, age, disease duration and degree of disability. The Spearman rank correlation was stronger with volumetric reduction of the cerebellum than with brain stem. Our data allow us to conclude that volumetric analysis might reveal progressive degeneration after disease onset, which in turn is linked to both age and number of CAG repeat expansions in SCA 3.

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)

2007 ◽  
Vol 144B (4) ◽  
pp. 566-569 ◽  
Author(s):  
Flora Tassone ◽  
John Adams ◽  
Elizabeth M. Berry-Kravis ◽  
Susannah S. Cohen ◽  
Alfredo Brusco ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Fragile X ◽  
Repeat Length ◽  
Cgg Repeat ◽  
Ataxia Syndrome

scholarly journals Patients with neuromyelitis optica have a more severe disease than patients with relapsingremitting multiple sclerosis, including higher risk of dying of a demyelinating disease

2013 ◽  
Vol 71 (5) ◽  
pp. 275-279 ◽  
Author(s):  
Denis Bernardi Bichuetti ◽  
Enedina Maria Lobato de Oliveira ◽  
Nilton Amorin de Souza ◽  
Mar Tintoré ◽  
Alberto Alain Gabbai
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
Disease Duration ◽  
Demyelinating Disease ◽  
Age Of Onset ◽  
Severe Disease ◽  
Expanded Disability Status Scale ◽  
Disability Status ◽  
Relapsing Remitting ◽  
Relapsing Remitting Multiple Sclerosis

Although neuromyelitis optica (NMO) is known to be a more severe disease than relapsing-remitting multiple sclerosis (RRMS), few studies comparing both conditions in a single center have been done.Methods:Comparison of our previously published cohort of 41 NMO patients with 177 RRMS patients followed in the same center, from 1994 to 2007.Results:Mean age of onset was 32.6 for NMO and 30.2 for RRMS (p=0.2062) with mean disease duration of 7.4 years for NMO and 10.3 years for RRMS. Patients with NMO had a higher annualized relapse rate (1.0 versus 0.8, p=0.0013) and progression index (0.9 versus 0.6, p≪0.0001), with more patients reaching expanded disability status scale (EDSS) 6.0 (39 versus 17%, p=0.0036). The odds ratio for reaching EDSS 6.0 and being deceased due to NMO in comparison to RRMS were, respectively, 3.14 and 12.15.Conclusion:Patients with NMO have a more severe disease than patients with RRMS, including higher risk of dying of a demyelinating disease.

scholarly journals Camptocormia in patients with multiple system atrophy at different disease durations: frequency and related factors

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ling Yu Zhang ◽  
Bei Cao ◽  
Qian-Qian Wei ◽  
Ru Wei Ou ◽  
Bi Zhao ◽  
...  
Keyword(s):  
Multiple System Atrophy ◽  
Disease Severity ◽  
Disease Duration ◽  
Rating Scale ◽  
Cox Regression ◽  
Age Of Onset ◽  
Older Age ◽  
Related Factors ◽  
Cox Regression Analysis ◽  
The Impact

Abstract Background Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations. Also, the impact of camptocormia on disability was evaluated. Methods A total of 716 patients were enrolled in the study. They were classified into three groups based on disease duration (≤ 3, 3–5, ≥ 5 years). Specific scales were used to evaluate the motor and non-motor symptoms. Disease severity was assessed using the Unified Multiple System Atrophy Rating Scale (UMSARS). The binary logistic regression model was used to explore the factors related to camptocormia. To analyze the impact of camptocormia on disability in patients with disease duration less than 5 years, propensity score matching (PSM) and stratified Cox regression analysis were used. Results In the current study, we found that the frequency of camptocormia was 8.9, 19.7 and 19.2% when the disease duration was ≤3, 3–5, ≥ 5 years, respectively. In the disease duration ≤3 years group, we found that MSA-parkinsonian subtype (MSA-P) (OR = 2.043, P = 0.043), higher total UMSARS score (OR = 1.063, P < 0.001), older age of onset (OR = 1.047, P = 0.042), and lower score on the frontal assessment battery (FAB) (OR = 0.899, P = 0.046) were associated with camptocormia. Only greater disease severity was associated with camptocormia in the group of patients with disease duration 3–5 years (OR = 1.494, P = 0.025) and in the group of patients with disease duration ≥5 years (OR = 1.076, P = 0.005). There was no significant impact of camptocormia on disability in patients with a disease duration of < 5 years (HR = 0.687, P = 0.463). Conclusion The frequency of camptocormia increased with prolonged disease duration. Disease severity was related to camptocormia at different stages of the disease. The MSA-P subtype, older age of onset, and lower FAB score were associated with camptocormia in the early stage of the disease.

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