T2-hyperintensity in the internal globus pallidus in Machado-Joseph disease

A 69-year-old male patient with Machado-Joseph disease (MJD) presented with a mild cerebellar ataxia, global areflexia, and nystagmus. Magnetic resonance imaging showed cerebellar atrophy; brainstem atrophy, mainly pontine, and a linear abnormal bilateral hyperintense along the medial aspect of the globus pallidus internus on T2-weighted sequence and fluid-attenuated inversion recovery (FLAIR) ([Figure 1]). This radiographic finding implies degeneration of the lenticular fasciculus.[1] The hyperintensity may be associated with degeneration of the subthalamic fascicles or the nigrostriatal dopaminergic fibers.[1] This finding is not pathognomonic of MJD, although it has been described in subjects with other types of spinocerebellar ataxias and in healthy elderly people.[2]

Figure 1 T2 and FLAIR hyperintensity in a patient with Machado-Joseph disease (SCA3). Cerebellar atrophy is shown in sagittal T1 (A), and axial T2 (B and C). Hyperintensity in the medial aspect of the internal globus pallidus is shown in the FLAIR (D) and T2 (E), but in T1 (F) there is no sign of abnormality.

Conflict of Interest

The authors have no conflict of interest to declare.

Authors' Contributions

ATM: conceptualization, investigation, methodology, project administration, resources, supervision, writing – original draft, writing – review & editing; JEDA: conceptualization, writing – original draft, writing – review & editing; LVA: conceptualization, writing – original draft, writing – review & editing; RNLFL, GLF, AMTN: conceptualization, writing – review & editing; HAGT: conceptualization, project administration, supervision, writing – review & editing.

• References

• 1 Yamada S, Nishimiya J, Nakajima T, Taketazu F. Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients. J Neurol Neurosurg Psychiatry 2005; 76 (04) 573-575 DOI: 10.1136/jnnp.2004.040279.
• 2 Shirai W, Ito S, Hattori T. Linear T2 hyperintensity along the medial margin of the globus pallidus in patients with Machado-Joseph disease and Parkinson disease, and in healthy subjects. AJNR Am J Neuroradiol 2007; 28 (10) 1993-1995 DOI: 10.3174/ajnr.A0705.

Publication History

Received: 16 May 2023

Accepted: 02 July 2023

Article published online:
13 October 2023