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  • Title: Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD.
    Author: Xing W, Wang XY, Liao XX, Liao WH, Shen L.
    Journal: Magn Reson Imaging; 2014 Dec; 32(10):1330-4. PubMed ID: 25172988.
    Abstract:
    BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) and Machado-Joseph disease (MJD) are similar diseases that are often referred to jointly as SCA3/MJD. As the most common autosomal-dominantly inherited subtype of hereditary spastic paraplegia (HSP), HSP4 (or SPG4) has overlapping symptoms with SCA3/MJD, which hinders their diagnoses. Arterial spin labeling (ASL) is a noninvasive, contrast-agent free, magnetic resonance perfusion imaging method used to obtain maps of the cerebral blood flow (CBF). Here, we investigated the diagnostic value of ASL in SCA3/MJD and SPG4 patients. METHODS: A total of 13 SPG4 cases, 38 SCA3/MJD cases (22 onset patients and 16 genetic abnormality-only patients), and 27 healthy volunteers were examined by ASL. Data were processed to obtain the regional CBF (rCBF) and comparatively studied. RESULTS: In the pons, cerebellar dentate nucleus, and cerebellar cortex, rCBF of the onset SCA3/MJD group was significantly lower than that of the normal control group. In the cerebellar dentate nucleus and cerebellar cortex, the rCBF of the non-onset SCA3/MJD group was significantly lower than that of the control group. In the pons and cerebellar cortex, the rCBF of the onset SCA3/MJD group was significantly lower than that of the SPG4 group. CONCLUSIONS: SCA3/MJD lesions are mainly located in the cerebellum and brainstem. Gray matter and white matter were both involved, although the deep cerebellar nuclei may be the earliest involved region. Cerebellar and brainstem lesions of SCA3/MJD were more severe than those of SPG4. ASL can aid the diagnosis of SCA3/MJD and SPG4.
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