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Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease

  • Diagnostic Neuroradiology
  • Published:
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Abstract

Purpose

Machado-Joseph disease (MJD/SCA3) is the most frequent spinocerebellar ataxia worldwide. Pathological studies revealed less melanin-containing dopaminergic neurons in the substantia nigra (SN) pars compacta in MJD/SCA3 patients. The purpose of this study was to quantify the damage in the SN reported for MJD/SCA3 patients in vivo using neuromelanin MR imaging.

Methods

We retrospectively reviewed the clinical information and MR imaging in sixteen MJD/SCA3 patients and fourteen healthy controls. High-resolution T1-WI of the SN were acquired using a 3-T MR system. The neuromelanin-related contrast (NRC), which was defined as the number of pixels of high-signal-intensity areas on T1-WI in the SN, was calculated semi-automatically. The NRC values were compared between MJD/SCA3 patients and normal controls.

Results

The NRC values were significantly lower in MJD/SCA3 patients than in healthy controls. In MJD/SCA3 patients, a significant negative correlation existed between disease durations and NRC values. No significant difference in the NRC values was revealed between the MJD/SCA3 patients with and without parkinsonism.

Conclusion

Neuromelanin in the SN may decrease at the early stage of the disease and continue to decrease over time with the disease duration in MJD/SCA3 patients. The NRC may be a useful biological index for monitoring MJD/SCA3.

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Abbreviations

SCA:

Spinocerebellar ataxia

MJD:

Machado-Joseph disease

CAG repeat:

Cytosine-adenine-guanine repeat

SN:

Substantia nigra

MR:

Magnetic resonance

3T:

3-tesla

T1-WI:

T1-weighted imaging

NRC:

Neuromelanin-related contrast

DAT:

Dopamine transporter

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Funding

No funding was received for this study.

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Authors and Affiliations

  1. Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan

    Yasuhiro Nakata & Atsuko Sakamoto

  2. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan

    Akihiro Kawata

Authors
  1. Yasuhiro Nakata
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  2. Atsuko Sakamoto
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  3. Akihiro Kawata
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Correspondence to Yasuhiro Nakata.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The present study was retrospective. Our local ethics committee did not require the study’s approval or the patients’ informed consent for this retrospective review of patients’ records and images except for the patients’ genetic information. In addition, our local ethics committee approved using genetic information for this research.

The healthy volunteers were recruited and examined at our hospital. Our local ethics committee approved the MR study of healthy volunteers for research.

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Written informed consent was obtained from all patients and all healthy volunteers.

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Nakata, Y., Sakamoto, A. & Kawata, A. Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease. Neuroradiology 62, 1433–1439 (2020). https://doi.org/10.1007/s00234-020-02479-9

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  • DOI: https://doi.org/10.1007/s00234-020-02479-9

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