scholarly journals Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Ryohei Norioka ◽  
Keizo Sugaya ◽  
Aki Murayama ◽  
Tomoya Kawazoe ◽  
Shinsuke Tobisawa ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Clinical Characteristics ◽  
Area Ratio ◽  
Spinocerebellar Ataxia Type ◽  
Cross Sectional ◽  
Dopaminergic Dysfunction ◽  
Significant Difference ◽  
Longitudinal Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Rate Of Decline

Abstract Background Spinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the BEAN1 gene. Clinically, SCA31 is characterized by late adult-onset, pure cerebellar ataxia. To explore the association between parkinsonism and SCA31, five patients with SCA31 with concomitant nigrostriatal dopaminergic dysfunction (NSDD) development, including three cases of L-DOPA responsive parkinsonism, were analyzed. Methods To assess regional brain atrophy, cross-sectional and longitudinal imaging analyses were retrospectively performed using magnetic resonance imaging (MRI) planimetry. The midbrain-to-pons (M/P) area ratio and cerebellar area were measured on midsagittal T1-weighted MRI in five patients with SCA31 with concomitant NSDD (NSDD(+)), 14 patients with SCA31 without NSDD (NSDD(−)), 32 patients with Parkinson’s disease (PD), and 15 patients with progressive supranuclear palsy (PSP). Longitudinal changes in the M/P area ratio were assessed by serial MRI of NSDD(+) (n = 5) and NSDD(−) (n = 9). Results The clinical characteristics assessed in the five patients with NSDD were as follows: the mean age at NSDD onset (72.0 ± 10.8 years), prominence of bradykinesia/akinesia (5/5), rigidity (4/5), tremor (2/5), dysautonomia (0/5), vertical gaze limitation (1/5), and abnormalities on 123I-ioflupane dopamine transporter scintigraphy (3/3) and 3-Tesla neuromelanin MRI (4/4). A clear reduction in the midbrain area and the M/P area ratio was observed in the NSDD(+) group (p < 0.05) while there was no significant difference in disease duration or in the pons area among the NSDD(+), NSDD(−), and PD groups. There was also a significant difference in the midbrain and pons area between NSDD(+) and PSP (p < 0.05). Thus, mild but significant midbrain atrophy was observed in NSDD(+). A faster rate of decline in the midbrain area and the M/P area ratio was evident in NSDD(+) (p < 0.05). Conclusion The clinical characteristics of the five patients with SCA31 with concomitant NSDD, together with the topographical pattern of atrophy, were inconsistent with PD, PSP, and multiple system atrophy, suggesting that SCA31 may manifest NSDD in association with the pathomechanisms underlying SCA31.

scholarly journals Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction

2021 ◽  
Author(s):  
Ryohei Norioka ◽  
Keizo Sugaya ◽  
Aki Murayama ◽  
Tomoya Kawazoe ◽  
Shinsuke Tobisawa ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Clinical Characteristics ◽  
Area Ratio ◽  
Spinocerebellar Ataxia Type ◽  
Cross Sectional ◽  
Dopaminergic Dysfunction ◽  
Significant Difference ◽  
Longitudinal Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Rate Of Decline

Abstract Background Spinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the BEAN1 gene. Clinically, SCA31 is characterized by late-adult onset, pure cerebellar ataxia. To explore the association between parkinsonism and SCA31, five patients with SCA31 with concomitant nigrostriatal dopaminergic dysfunction (NSDD) development, including three cases of L-DOPA responsive parkinsonism, were characterized. Methods To assess regional brain atrophy, cross-sectional and longitudinal imaging analyses were retrospectively performed using magnetic resonance imaging (MRI) planimetry. The midbrain-to-pons (M/P) area ratio and cerebellar area were measured on midsagittal T1-weighted MRI in five patients with SCA31 with concomitant NSDD (NSDD(+)), 14 patients with SCA31 without NSDD (NSDD(-)), 32 patients with Parkinson’s disease (PD), and 15 patients with progressive supranuclear palsy (PSP). Longitudinal changes in the M/P area ratio were assessed by serial MRI of NSDD(+) (n = 5) and NSDD(-) (n = 9). Results The clinical characteristics assessed in the five patients with NSDD were as follows: the mean age at NSDD onset (72.0 ± 10.8 years), prominence of bradykinesia/akinesia (5/5), rigidity (4/5), tremor (2/5), dysautonomia (0/5), vertical gaze limitation (1/5), and abnormalities on 123I-ioflupane dopamine transporter scintigraphy (3/3) and 3-Tesla neuromelanin MRI (4/4). A clear reduction in the midbrain area and the M/P area ratio was observed in the NSDD(+) group (p < 0.05) while there was no significant difference in disease duration or in the pons area among the NSDD(+), NSDD(-), and PD groups. There was also a significant difference in the midbrain and pons area between NSDD(+) and PSP (p < 0.05). Thus, mild but significant midbrain atrophy was observed in NSDD(+). A faster rate of decline in the midbrain area and the M/P area ratio was evident in NSDD(+) (p < 0.05). Conclusion The clinical characteristics of five patients with SCA31 with concomitant NSDD, together with the topographical pattern of atrophy, were inconsistent with those of PD, PSP, or multiple system atrophy, suggesting that SCA31 may manifest NSDD in association with the pathomechanisms underlying SCA31.

scholarly journals Midbrain Atrophy Related to Parkinsonism in a Non-Coding Repeat Expansion Disorder: Five Cases of Spinocerebellar Ataxia Type 31 With Nigrostriatal Dopaminergic Dysfunction

2021 ◽  
Author(s):  
Ryohei Norioka; ◽  
Keizo Sugaya ◽  
Aki Murayama ◽  
Tomoya Kawazoe ◽  
Shinsuke Tobisawa ◽  
...  
Keyword(s):  
Repeat Expansion ◽  
Area Ratio ◽  
Spinocerebellar Ataxia Type ◽  
Cross Sectional ◽  
Dopaminergic Dysfunction ◽  
Significant Difference ◽  
Repeat Expansions ◽  
Longitudinal Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Rate Of Decline

Abstract BackgroundSpinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the BEAN1 gene. Clinically, SCA31 is characterized by late-adult onset, pure cerebellar ataxia. To explore the association between parkinsonism and SCA31, five patients with SCA31 with concomitant nigrostriatal dopaminergic dysfunction (NSDD) development, including three cases of L-DOPA responsive parkinsonism, were characterized. MethodsTo assess regional brain atrophy, cross-sectional and longitudinal imaging analyses were retrospectively performed using Magnetic resonance imaging (MRI) planimetry. The midbrain-to-pons (M/P) area ratio and cerebellar area were measured on midsagittal T1-weighted MRI in five patients with NSDD (NSDD(+)), 14 patients with SCA31 without NSDD (NSDD(-)), 32 patients with Parkinson’s disease (PD), and 15 patients with progressive supranuclear palsy. Longitudinal changes in the M/P area ratio were assessed by serial MRI of NSDD(+) (n = 5) and NSDD(-) (n = 9). ResultsThe clinical characteristics relevant to parkinsonism in NSDD(+) were indistinguishable from those of PD except for the prominence of bradykinesia/akinesia (5/5) and the absence of dysautonomia (5/5). However, a clear reduction in the midbrain area and the M/P area ratio was observed in NSDD(+) (p <0.05) while there was no significant difference in disease duration or in the pons area among NSDD(+), NSDD(-), and PD. A faster rate of decline in the midbrain area and the M/P area ratio was evident in NSDD(+) (p <0.05).ConclusionThe unique features of midbrain atrophy related to NSDD in our patients suggest that SCA31 belongs to the group of non-coding repeat expansion disorders causing parkinsonism.

scholarly journals Clinical characteristics and in-hospital outcome of heart failure in women: a single center registry from Egyptian cardiac care unit

2019 ◽  
Vol 71 (1) ◽  
Author(s):  
Hala Mahfouz Badran ◽  
Marwa Ahmed Elgharably ◽  
Naglaa Faheem
Keyword(s):  
Clinical Characteristics ◽  
Heart Diseases ◽  
University Hospital ◽  
Cardiac Care ◽  
Single Center ◽  
Term Outcome ◽  
Cross Sectional ◽  
Valvular Heart Diseases ◽  
Significant Difference ◽  
Cardiac Care Unit

Abstract Background This study represents figures from a cardiac care unit (CCU) of a university hospital; it describes an example of a tertiary academic center in Egypt and provides an epidemiological view of the female HF patients, their risk profile, and short-term outcome during hospitalization. Results It is a local single-center cross-sectional observational registry of CCU patients 1 year from July 2015 to July 2016. Patient’s data were collected through a special software program. Women with evidence of HF were thoroughly studied. Among the 1006 patients admitted to CCU in 1 year, 345 (34.2%) patients were females and 118 (34.2%) had evidence of HF, whereas 661 (65.7%) were males and 178 (26.9%) of them had HF. Women with HF showed 11.7% prevalence of the total population admitted to CCU. 72.7% were HFrEF and 27.3% were HFpEF. Compared to men, women with HF were older in age, more obese, less symptomatic than men, had higher incidence of associated co-morbidities, less likely to be re-admitted for HF, and less likely to have ACS and PCI. Valvular heart diseases and cardiomyopathies were the commonest etiologies of their HF. Women had more frequent normal ECG, higher EF%, and smaller LA size. There is no difference in medications and CCU procedures. While females had shorter stay, there is no significant difference in hospital mortality compared to male patients. Conclusions Despite higher prevalence of HF in females admitted to CCU and different clinical characteristics and etiology of HF, female gender was associated with similar prognosis during hospital course compared to male gender.

scholarly journals MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

2017 ◽  
Vol 9 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Fumihito Yoshii ◽  
Hitoshi Tomiyasu ◽  
Ryo Watanabe ◽  
Masafuchi Ryo
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Spinocerebellar Ataxia Type ◽  
Proton Density ◽  
Spinocerebellar Ataxias ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cerebellar Peduncles ◽  
Magnetic Resonance Imaging Mri ◽  
Inferior Olivary

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias.

scholarly journals Malaria and dengue in Hodeidah city, Yemen: High proportion of febrile outpatients with dengue or malaria, but low proportion co-infected

PLoS ONE ◽  
2021 ◽  
Vol 16 (6) ◽  
pp. e0253556
Author(s):  
Rashad Abdul-Ghani ◽  
Mohammed A. K. Mahdy ◽  
Sameer Alkubati ◽  
Abdullah A. Al-Mikhlafy ◽  
Abdullah Alhariri ◽  
...  
Keyword(s):  
Falciparum Malaria ◽  
Clinical Characteristics ◽  
Cross Sectional Study ◽  
Presumptive Treatment ◽  
Cross Sectional ◽  
Transmission Season ◽  
Laboratory Confirmation ◽  
Malaria Transmission Season ◽  
Significant Difference ◽  
Probable Infection

Background The emergence of dengue in malaria-endemic countries with limited diagnostic resources, such as Yemen, can be problematic because presumptive treatment of febrile cases as being malaria is a common practice. Co-infections with dengue and malaria are often overlooked and misdiagnosed as being a mono-infection because of clinical similarities. In Hodeidah city, Yemen, the capacity to conduct the diagnosis can be aggravated by the war context. To assess the magnitude of the problem, we determined the proportions of malaria, dengue and co-infection in relation to clinical characteristics among febrile outpatients. Methods This cross-sectional study included 355 febrile outpatients from Hodeidah city during the malaria transmission season (September 2018 –February 2019). Sociodemographic and clinical characteristics were collected using a pre-designed, structured questionnaire. Malaria was confirmed using microscopy and rapid diagnostic tests (RDTs), while dengue was confirmed using RDTs. Results Mono-infection proportions of 32.4% for falciparum malaria and 35.2% for dengue were found, where about two-thirds of dengue patients had a recent probable infection. However, co-infection with falciparum malaria and dengue was detected among 4.8% of cases. There was no statistically significant difference between having co-infection and mono-infection with malaria or dengue in relation to the sociodemographic characteristics. On the other hand, the odds of co-infection were significantly lower than the odds of malaria among patients presenting with sweating (OR = 0.1, 95% CI: 0.05–0.45; p <0.001), while the odds of co-infection were 3.5 times significantly higher than the odds of dengue among patients presenting with vomiting (OR = 3.5, 95% CI: 1.20–10.04; p <0.021). However, there were no statistically significant differences between having co-infection and mono-infection (malaria or dengue) in relation to other clinical characteristics. Conclusions Mono-infection with malaria or dengue can be detected among about one-third of febrile outpatients in Hodeidah, while almost 5.0% of cases can be co-infected. Sociodemographic and clinical characteristics cannot easily distinguish malaria patients from dengue-infected or co-infected ones, reinforcing the necessity of laboratory confirmation and avoidance of treating febrile patients as being presumed malaria cases.

Clinical characteristics of spinocerebellar ataxia type 36 (SCA36) in South Kyusyu, Japan

2017 ◽  
Vol 381 ◽  
pp. 890
Author(s):  
R. Ohkubo ◽  
T. Inoue ◽  
Y. Mitsuyama ◽  
R. Hirano ◽  
H. Takashima
Keyword(s):  
Spinocerebellar Ataxia ◽  
Clinical Characteristics ◽  
Spinocerebellar Ataxia Type

Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado–Joseph disease): A cross-sectional study

2011 ◽  
Vol 504 (2) ◽  
pp. 98-101 ◽  
Author(s):  
José Luiz Pedroso ◽  
Edson Bor-Seng-Shu ◽  
Andre Carvalho Felício ◽  
Pedro Braga-Neto ◽  
Manoel Jacobsen Teixeira ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Cross Sectional Study ◽  
Transcranial Sonography ◽  
Spinocerebellar Ataxia Type ◽  
Sectional Study ◽  
Spinocerebellar Ataxia Type 3 ◽  
Cross Sectional ◽  
Machado Joseph Disease ◽  
Type 3

Quantitative susceptibility mapping in spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD)

2019 ◽  
Vol 61 (4) ◽  
pp. 520-527
Author(s):  
Fangfang Xie ◽  
Liao Weihua ◽  
Ouyang Lirong ◽  
Xiaoyi Wang ◽  
Wu Xing
Keyword(s):  
Substantia Nigra ◽  
Globus Pallidus ◽  
Spinocerebellar Ataxia ◽  
Susceptibility Mapping ◽  
Iron Deposition ◽  
Spinocerebellar Ataxia Type ◽  
Quantitative Susceptibility Mapping ◽  
Significant Difference ◽  
Machado Joseph Disease ◽  
Normal Controls

Background The deep nuclei, brainstem, and anterior central gyrus are important sites of spinocerebellar ataxia type3/Machado–Joseph Disease (SCA3/MJD) involvement. These locations were the common iron deposition areas. We hypothesized that iron deposition changes occur in SCA3/MJD patients and are associated with disease progression. Purpose Quantitative susceptibility mapping was used to quantitatively analyze changes in iron levels in SCA3/MJD patients. Material and Methods Eighteen symptomatic SCA3/MJD patients and 18 age-matched normal controls (group 1; NC1), and 12 asymptomatic mutation carriers (pre-SCA3/MJD) and 16 age-matched normal controls (group 2; NC2) were examined by enhanced gradient echo T2*-weighted angiography. Data were processed to obtain the quantitative susceptibility mapping values. Independent sample t-tests were conducted to compare the differences in the quantitative susceptibility mapping values. Results In the red nuclei and substantia nigra, the quantitative susceptibility mapping values of the symptomatic SCA3/MJD group were significantly higher than those of NC1 ( P < 0.05). The quantitative susceptibility mapping values of the symptomatic SCA3/MJD group were higher than those of NC1 in the globus pallidus, but it was not statistically significant ( P = 0.056). No significant difference in quantitative susceptibility mapping values was found between the pre-SCA3/MJD and NC2. No significant correlation was found between the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia and the quantitative susceptibility mapping values. Conclusion The results clearly demonstrated the quantitative susceptibility mapping value increase in the globus pallidus, red nuclei, and substantia nigra of the symptomatic SCA3/MJD group, indicating iron overload in these nuclei, suggesting that iron deposition is associated with disease onset.

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