Hot cross bun sign in a late-onset SCA1 patient

Wang, Ying; Koh, Kishin; Takaki, Ryusuke; Shindo, Kazumasa; Takiyama, Yoshihisa

doi:10.1007/s10072-016-2635-5

Cited by 6 publications

(17 citation statements)

References 5 publications

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“…However, disease duration was not specified in the Taiwanese report 15 . Other case series reporting HCB signs in SCAs did not take into account disease duration; in fact, MRIs were taken at more than 5 years of disease duration 32–34 . In our SCA cohort, the overall HCB signs appeared at 11.1 ± 6.0 years of disease duration.…”

Section: Discussionmentioning

confidence: 99%

Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias

Kim

Ahn

Cho

et al. 2019

Sci Rep

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Clinically differentiating multiple system atrophy cerebellar (MSA-C) phenotype and spinocerebellar ataxias (SCAs) is challenging especially in the early stage. We assessed diagnostic value of brain magnetic resonance imaging (MRI) in differentiating MSA-C and SCAs based at different disease stages (<3, 3–7, and >7 years of disease duration). Overall, 186 patients with probable MSA-C and 117 with genetically confirmed SCAs were included. Hot cross bun (HCB) signs and middle cerebellar peduncle (MCP) hyperintensities were exclusively prevalent in MSA-C compared to SCAs at <3 years (HCB, 44.6% versus 0.9%; MCP hyperintensities, 38.3% versus 0.9%, respectively). Sensitivity, specificity, and positive predictive value (PPV) for HCB signs to differentiate MSA-C from SCAs were 45%, 99%, and 99% and those for MCP hyperintensities were 68%, 99%, and 99%, respectively; considering both HCB signs and MCP hyperintensities, specificity and PPV were 100%. However, the differential value of MRI signs decreased over time. MCP widths were smaller and showed more significant decrease in MSA-C than in SCAs. In conclusion, pontine and MCP changes were exclusively prominent in early stage MSA-C rather than in SCAs. Therefore, we should consider disease duration when interpreting pontine and MCP changes in brain MRIs, which will help better differentiate MSA-C and SCAs.

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Section: Discussionmentioning

confidence: 99%

Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias

Kim

Ahn

Cho

et al. 2019

Sci Rep

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“…In neuroimaging, in addition to cerebellar atrophy, the hot cross bun sign of brainstem was observed in the proband and her sister, which was of particular interest to us. It was reported that the hot cross bun sign was observed in SCA1, [ 8 ] 2, 3, 7, 8, [ 9 , 10 ] 23, [ 11 ] and 34. [ 12 ] However, further epidemiological studies are needed to determine the prevalence of this sign in SCA42.…”

Section: Discussionmentioning

confidence: 99%

A case of a novel CACNA1G mutation from a Chinese family with SCA42

Zhou

et al. 2018

Medicine

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Rationale:Spinocerebellar ataxia (SCA), a genetically inherited heterogeneous disorder, is characterized by gait ataxia, dysarthria, parkinsonism, choreic movements, dystonia, epilepsy, cognitive and psychiatric symptoms. Spinocerebellar ataxia-42 (SCA42), caused by heterozygous mutation in the calcium channel 1G (CACNA1G) gene, is a rare SCA subtype and the transmission pattern is autosomal dominant inheritance.Patient concerns:We presented a novel mutation (c.4721T>A; p.Met1574Lys) in 3 patients from a Chinese family using whole-exome sequencing. All patients exhibited cerebellar ataxia and the clinical manifestations were similar to those that were previously reported in the French and Japanese families. In addition, cerebral magnetic resonance imaging (MRI) showed cerebellar atrophy, and the hot cross bun sign of brainstem was found in the proband and her sister.Diagnoses:The clinical features and MRI findings indicated the diagnosis of SCA. Taken together, the symptoms, MRI findings, as well as whole-exome sequencing made the diagnosis of SCA42 most likely candidate.Interventions and outcomes:The patient was treated with cobamamide (1.5 mg once daily) for nerve nutrition and further physical therapy. At the 4-month follow-up visit, the patient's condition did not improve obviously.Lessons:Recently, a missense mutation in CACNA1G gene (c.5144G4A; p.Arg1715His) was identified in French and Japanese families with SCA42. However, there has been no report of SCA42 or its mutant loci in Chinese patients. Our finding showed a novel mutation in CACNA1G gene and provided important insights into the pathogenesis of SCA42.

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“…were analyzed (Muqit et al, 2001;Soares-Fernandes et al, 2009;Yadav et al, 2011;Brooks, 2012;Jain et al, 2013Jain et al, , 2014Padmanabhan et al, 2013;Pedroso et al, 2013;Roh et al, 2013;Goldman et al, 2014;Deguchi et al, 2015;Ozaki et al, 2015Ozaki et al, , 2019Pan et al, 2015;Ishikawa et al, 2016;Wang et al, 2016;Nagpal and Agarwal, 2017;Way et al, 2019;Carre et al, 2020), and 39 reporting cases were reviewed. For published cases resulting from the systematic review, we collected data on disease diagnosis, age, gender, disease duration, symptoms (parkinsonism or cerebellar ataxia or urination dysfunction), imaging features, treatment, and the response of the HCBs to treatment.…”

Section: Search Strategy Selection Criteria and Standard Patient Comentioning

confidence: 99%

“…Demographic and clinical characteristics for each case are listed in Table 1 (Muqit et al, 2001;Srivastava et al, 2005;Takao et al, 2007;Massano et al, 2008;Suresh Chandran et al, 2008;Soares-Fernandes et al, 2009;Yadav et al, 2011;Recio Bermejo et al, 2012;Gooneratne et al, 2013;Jain et al, 2013Jain et al, , 2014Padmanabhan et al, 2013;Pedroso et al, 2013;Roh et al, 2013;Zhang et al, 2013;Namekawa et al, 2015;Pan et al, 2015;Das et al, 2016;Ishikawa et al, 2016;Lin et al, 2016;Wang et al, 2016;Nagpal and Agarwal, 2017;Gan et al, 2018;Way et al, 2019); the published and newly screened MSA patients with HCBs in our center are listed in Supplementary Table 1.…”

Section: Demographic Characteristics and Clinical Phenotypes In Hcbs-mentioning

confidence: 99%

“…The signal is typically seen in MSA and SCA usually thought to result from the gliosis of pontocerebellar fibers (Gulati et al, 2007). However, recent evidence suggests that HCBs is not a specific sign for MSA and SCA, but it can be observed in other diseases along with various clinical phenotypes (Muqit et al, 2001;Soares-Fernandes et al, 2009;Yadav et al, 2011;Jain et al, 2013Jain et al, , 2014Padmanabhan et al, 2013;Pedroso et al, 2013;Roh et al, 2013;Zhang et al, 2013;Pan et al, 2015;Ishikawa et al, 2016;Wang et al, 2016). To our knowledge, few studies have systematically depicted the disease spectrums with HCBs, analyzed the clinical heterogeneity, and evaluated the disease progression and clinical outcomes (van Eimeren et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

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Various Diseases and Clinical Heterogeneity Are Associated With “Hot Cross Bun”

Zhu

Deng

et al. 2020

Front. Aging Neurosci.

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Objective: To characterize the clinical phenotypes associated with the “hot cross bun” sign (HCBs) on MRI and identify correlations between neuroimaging and clinical characteristics.Methods: Firstly, we screened a cohort of patients with HCBs from our radiologic information system (RIS) in our center. Secondly, we systematically reviewed published cases on HCBs and classified all these cases according to their etiologies. Finally, we characterized all HCBs cases in detail and classified the disease spectra and their clinical heterogeneity.Results: Out of a total of 3,546 patients who were screened, we identified 40 patients with HCBs imaging sign in our cohort; systemic literature review identified 39 cases, which were associated with 14 diseases. In our cohort, inflammation [neuromyelitis optica spectrum disorders (NMOSD), multiple sclerosis (MS), and acute disseminated encephalomyelitis (ADEM)] and toxicants [toxic encephalopathy caused by phenytoin sodium (TEPS)] were some of the underlying etiologies. Published cases by systemic literature review were linked to metabolic abnormality, degeneration, neoplasm, infection, and stroke. We demonstrated that the clinical phenotype, neuroimaging characteristics, and HCBs response to therapy varied greatly depending on underlying etiologies.Conclusion: This is the first to report HCBs spectra in inflammatory and toxication diseases. Our study and systemic literature review demonstrated that the underpinning disease spectrum may be broader than previously recognized.

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Hot cross bun sign in a late-onset SCA1 patient

Cited by 6 publications

References 5 publications

Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias

Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias

A case of a novel CACNA1G mutation from a Chinese family with SCA42

Various Diseases and Clinical Heterogeneity Are Associated With “Hot Cross Bun”

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