Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
Neuroradiology
Published in: Neuroradiology 11/2020

01-11-2020 | Magnetic Resonance Imaging | Diagnostic Neuroradiology

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

Authors: Yasuhiro Nakata, Atsuko Sakamoto, Akihiro Kawata

Published in: Neuroradiology | Issue 11/2020

Login to get access

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.
Literature
1.
Mendonça N, França MC Jr, Gonçalves AF, Januário C (2018) Clinical features of Machado-Joseph disease. Adv Exp Med Biol 1049:255–273CrossRef
2.
Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291–304CrossRef
3.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221–228CrossRef
4.
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O et al (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39:490–499CrossRef
5.
Schöls L, Reimold M, Seidel K, Globas C, Brockmann K, Hauser TK et al (2015) No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra. Brain. 138:3316–3326CrossRef
6.
Koeppen AH (2018) The neuropathology of spinocerebellar ataxia type 3/Machado-Joseph disease. Adv Exp Med Biol 1049:233–241CrossRef
7.
Sasaki M, Shibata E, Tohyama K, Takahashi J, Otsuka K, Tsuchiya K, Takahashi S, Ehara S, Terayama Y, Sakai A (2006) Neuromelanin magnetic resonance imaging of locus ceruleus and substantia nigra in Parkinson’s disease. Neuroreport. 17:1215–1218CrossRef
8.
Sasaki M, Shibata E, Tohyama K, Kudo K, Endoh J, Otsuka K, Sakai A (2008) Monoamine neurons in the human brain stem: anatomy, magnetic resonance imaging findings, and clinical implications. Neuroreport. 19:1649–1654CrossRef
9.
Matsuura K, Maeda M, Tabei KI, Umino M, Kajikawa H, Satoh M, Kida H, Tomimoto H (2016) A longitudinal study of neuromelanin-sensitive magnetic resonance imaging in Parkinson’s disease. Neurosci Lett 633:112–117CrossRef
10.
Kitao S, Matsusue E, Fujii S, Miyoshi F, Kaminou T, Kato S, Ito H, Ogawa T (2013) Correlation between pathology and neuromelanin MR imaging in Parkinson’s disease and dementia with Lewy bodies. Neuroradiology. 55:947–953CrossRef
11.
Tanaka M, Aihara Y, Ikeda S, Aihara Y (2011) Neuromelanin-related contrast in the substantia nigra semiquantitatively evaluated by magnetic resonance imaging at 3T: comparison between normal aging and Parkinson disease. Rinsho Shinkeigaku 51:14–20 JapaneseCrossRef
12.
Xing Y, Sapuan A, Dineen RA, Auer DP (2018) Life span pigmentation changes of the cubstantia nigra detected by neuromelanin-sensitive MRI. Mor Disord 33:1792–1799CrossRef
13.
Kawaguchi H, Shimada H, Kodaka F, Suzuki M, Shinotoh H, Hirano S, Kershaw J, Inoue Y, Nakamura M, Sasai T, Kobayashi M, Suhara T, Ito H (2016) Principal component analysis of multimodal neuromelanin MRI and dopamine transporter PET data provides a specific metric for the nigral dopaminergic neuronal density. PLoS One 11:e0151191CrossRef
14.
Rezende TJR, de Paiva JLR, Martinez ARM, Lopes-Cendes I, Pedroso JL, Barsottini OGP, Cendes F, França MC Jr (2018) Structural signature of SCA3: from presymptomatic to late disease stages. Ann Neurol 84:401–408CrossRef
15.
Lukas C, Schöls L, Bellenberg B, Rüb U, Przuntek H, Schmid G, Köster O, Suchan B (2006) Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. Neurosci Lett 408:230–235CrossRef
16.
D’Abreu A, França M Jr, Appenzeller S, Lopes-Cendes I, Cendes F (2009) Axonal dysfunction in the deep white matter in Machado-Joseph disease. J Neuroimaging 19:9–12CrossRef
17.
Horimoto Y, Matsumoto M, Akatsu H, Kojima A, Yoshida M, Nokura K, Yuasa H, Katada E, Yamamoto T, Kosaka K, Hashizume Y, Yamamoto H, Mitake S (2011) Longitudinal study on MRI intensity changes of Machado-Joseph disease: correlation between MRI findings and neuropathological changes. J Neurol 258:1657–1664CrossRef
18.
de Oliveira MS, D’Abreu A, França MC Jr, Lopes-Cendes I, Cendes F, Castellano G (2012) MRI-texture analysis of corpus callosum, thalamus, putamen, and caudate in Machado-Joseph disease. J Neuroimaging 22:46–52CrossRef
19.
Eichler L, Bellenberg B, Hahn HK, Köster O, Schöls L, Lukas C (2011) Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. AJNR Am J Neuroradiol 32:890–897CrossRef
20.
Camargos ST, Marques W Jr, Santos AC (2011) Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients. Arq Neuropsiquiatr 69:292–296CrossRef
21.
D’Abreu A, França MC Jr, Yasuda CL, Campos BA, Lopes-Cendes I, Cendes F (2012) Neocortical atrophy in Machado-Joseph disease: a longitudinal neuroimaging study. J Neuroimaging 22:285–291CrossRef
22.
Guimarães RP, D’Abreu A, Yasuda CL, França MC Jr, Silva BH, Cappabianco FA et al (2013) A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3. Mov Disord 28:1125–1132CrossRef
23.
Lopes TM, D’Abreu A, França MC Jr, Yasuda CL, Betting LE, Samara AB et al (2013) Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3. J Neurol 260:2370–2379CrossRef
24.
Kang JS, Klein JC, Baudrexel S, Deichmann R, Nolte D, Hilker R (2014) White matter damage is related to ataxia severity in SCA3. J Neurol 261:291–299CrossRef
25.
Xing W, Wang XY, Liao XX, Liao WH, Shen L (2014) Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD. Magn Reson Imaging 32:1330–1334CrossRef
26.
de Rezende TJ, D’Abreu A, Guimarães RP, Lopes TM, Lopes-Cendes I, Cendes F et al (2015) Cerebral cortex involvement in Machado-Joseph disease. Eur J Neurol 22:277–283CrossRef
27.
Stefanescu MR, Dohnalek M, Maderwald S, Thürling M, Minnerop M, Beck A, Schlamann M, Diedrichsen J, Ladd ME, Timmann D (2015) Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia. Brain. 138:1182–1197CrossRef
28.
Wang TY, Jao CW, Soong BW, Wu HM, Shyu KK, Wang PS, Wu YT (2015) Change in the cortical complexity of spinocerebellar ataxia type 3 appears earlier than clinical symptoms. PLoS One 10:e0118828CrossRef
29.
Duarte JV, Faustino R, Lobo M, Cunha G, Nunes C, Ferreira C, Januário C, Castelo-Branco M (2016) Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3. Hum Brain Mapp 37:3656–3668CrossRef
30.
Huang SR, Wu YT, Jao CW, Soong BW, Lirng JF, Wu HM et al (2016) CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. Neuroimage Clin 13:97–105CrossRef
31.
Hernandez-Castillo CR, Diaz R, Campos-Romo A, Fernandez-Ruiz J (2017) Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease. Cerebellum Ataxias 4:7CrossRef
32.
Meles SK, Kok JG, De Jong BM, Renken RJ, de Vries JJ, Spikman JM et al (2018) The cerebral metabolic topography of spinocerebellar ataxia type 3. Neuroimage Clin 19:90–97CrossRef
33.
Peng H, Liang X, Long Z, Chen Z, Shi Y, Xia K, Meng L, Tang B, Qiu R, Jiang H (2019) Gene-related cerebellar neurodegeneration in SCA3/MJD: a case-controlled imaging-genetic study. Front Neurol 10:1025CrossRef
34.
Yen TC, Lu CS, Tzen KY, Wey SP, Chou YH, Weng YH, Kao PF, Ting G (2000) Decreased dopamine transporter binding in Machado-Joseph disease. J Nucl Med 41:994–998PubMed
35.
Ogisu K, Kudo K, Sasaki M, Sakushima K, Yabe I, Sasaki H, Terae S, Nakanishi M, Shirato H (2013) 3D neuromelanin-sensitive magnetic resonance imaging with semi-automated volume measurement of the substantia nigra pars compacta for diagnosis of Parkinson’s disease. Neuroradiology. 55:719–724CrossRef
36.
Castellanos G, Fernández-Seara MA, Lorenzo-Betancor O, Ortega-Cubero S, Puigvert M, Uranga J, Vidorreta M, Irigoyen J, Lorenzo E, Muñoz-Barrutia A, Ortiz-de-Solorzano C, Pastor P, Pastor MA (2015) Automated neuromelanin imaging as a diagnostic biomarker for Parkinson’s disease. Mov Disord 30:945–952CrossRef
Metadata
Title
Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease
Authors
Yasuhiro Nakata
Atsuko Sakamoto
Akihiro Kawata
Publication date
01-11-2020
Publisher
Springer Berlin Heidelberg
Published in
Neuroradiology / Issue 11/2020
Print ISSN: 0028-3940
Electronic ISSN: 1432-1920
DOI
https://doi.org/10.1007/s00234-020-02479-9

Other articles of this Issue 11/2020

Neuroradiology 11/2020 Go to the issue

Diagnostic Neuroradiology

Intrathecal use of gadobutrol for gadolinium-enhanced MR cisternography in the evaluation of patients with otorhinorrhea

Diagnostic Neuroradiology

Multiparametric flow analysis using four-dimensional flow magnetic resonance imaging can detect cerebral hemodynamic impairment in patients with internal carotid artery stenosis

Review

Risk factors of cemented vertebral refracture after percutaneous vertebral augmentation: a systematic review and meta-analysis

Diagnostic Neuroradiology

Higher b-values improve the correlation between diffusion MRI and the cortical microarchitecture

Interventional Neuroradiology

Association between draining vein diameters and intracranial arteriovenous malformation hemorrhage: a multicentric retrospective study

Diagnostic Neuroradiology

Multi-parametric qualitative and quantitative MRI assessment as predictor of histological grading in previously treated meningiomas