Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease
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DIAGNOSTIC NEURORADIOLOGY
Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease Yasuhiro Nakata 1
&
Atsuko Sakamoto 1 & Akihiro Kawata 2
Received: 24 December 2019 / Accepted: 11 June 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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 semiautomatically. 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. Keywords Neuromelanin . Substantia nigra (SN) . Machado-Joseph disease (MJD) . Spinocerebellar ataxia type 3 (SCA3) . Magnetic resonance imaging (MRI)
Abbreviations SCA MJD CAG repeat SN MR 3T T1-WI NRC DAT
Introduction Spinocerebellar ataxia Machado-Joseph disease Cytosine-adenine-guanine repeat Substantia nigra Magnetic resonance 3-tesla T1-weighted imaging Neuromelanin-related contrast Dopamine transporter
* Yasuhiro Nakata [email protected] 1
Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
2
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
Spinocerebellar ataxias (SCAs) are considered rare disorders, with prevalence estimates varying from 0.3 to 3 per 100,000 individuals [1, 2], and patients with SCAs present a wide range of neurological symptoms. Machado-Joseph disease (MJD/SCA3) is the most frequent SCA worldwide, with a broad range of clinical manifestations [1, 2]. The phenotype is one of the most variable among SCAs. Typical SCA signs are found in most patients; however, MJD/SCA3 has been described as “pure” cerebellar ataxia, familial parkinsonism, hereditary spastic paraplegia, hereditary neuropathy, and restless legs syndrome [2]. Impaired temperature discrimination, pseudoexophthalmos (bulging eyes caused by lid retraction), faciolingual myokymia, and dystonia have been thought to be
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