Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients

Abstract

Our new finding on magnetic resonance imaging (MRI) of Machado-Joseph disease (MJD) patients indicates degeneration of the lenticular fasciculus (LF), a major outflow of the internal segment of the globus pallidus (GPi). We examined the clinical, radiological, and autopsy findings of one MJD patient and then retrospectively reviewed the MRI images of another 15 patients looking for a similar abnormal signal intensity. The significance of the clinicoradiological correlation of the MRI finding was confirmed by examining the MRI images of 130 control subjects. In the autopsy case, abnormal linear high intensity areas were observed along the bilateral medial margins of the internal segments of the GPi on T2 weighted, FLAIR, and proton density images, but not on T1 weighted images. Pathologically, this abnormal signal intensity was consistent with degeneration of the LF. The same finding was also observed in the other 15 patients. In two patients the finding was only unilaterally observed. No control subject showed this MRI finding. In MJD patients, abnormal linear high intensity areas indicating LF degeneration are usually observed along the medial margin of the GPi on T2 weighted, FLAIR, and proton density sequences. To our knowledge, this MRI finding has not previously been described.T he lenticular fasciculus (LF), which is a major outflow of the internal segment of the globus pallidus (GPi), is severely degenerated [1][2][3] in Machado-Joseph disease (MJD), which is one of the most prevalent familial cerebellar degenerative diseases in Japan. 4 We found in MJD patients that abnormal linear high intensity is observed on T2 weighted magnetic resonance imaging (MRI) along the medial margin of the internal segment of the GPi. This study was carried out to confirm that this MRI finding indicates LF degeneration. An autopsied case of MJD was clinicopathologically examined and then MRI images of other MJD cases were reviewed. The clinicoradiological relationship was examined and the significance of the MRI finding confirmed by examining MRI images of control subjects. METHODSPatients and control subjects There were 16 MJD patients (table 1). The diagnosis of MJD was made based on clinical presentation, positive family history for autosomal dominant cerebellar degeneration, and DNA analysis. The control subjects consisted of 130 consecutive patients (aged between 12 and 77 years old; mean age 51.7 years), who presented at our hospital during 2003 because of headache or dizziness, but showed no neurological abnormality other than exaggerated deep tendon reflexes. Molecular analysis of the MJD1 geneMolecular analysis of the MJD1 gene was performed as described by Kawaguchi and colleagues. 5MRI examination MRI examinations were performed using two different systems. A 1.0 T system (SMT-100X, Shimadzu, Kyoto, Japan) was used until April 2000, and a 1.5 T system (Magnetom Symphony, Siemens, Munich, Germany) thereafter. Standard brain examinations were carried out using T1 and T2 sequences with contiguous 10 mm thick slices. ...

Linear T2 Hyperintensity along the Medial Margin of the Globus Pallidus in Patients with Machado-Joseph Disease and Parkinson Disease, and in Healthy Subjects

“…In our study, linear hyperintensity along the medial margin of the GPi on T2WI was frequently observed in patients with MJD, which is consistent with the results of a previous report 2 in which hyperintensity along the GPi was considered to indicate the degeneration of the lenticular fasciculus, which originates from the inner portion of the GPi and runs dorsomedially through the fibers of the internal capsule. 5,6 The GPi and its efferent fibers, such as the lenticular fasciculus and ansa lenticularis, are frequently degenerated in patients with MJD, and there is also frequent involvement of the nigrostriatal and subthalamopallidal connections, 1,7 which also run along the GPi.…”

“…who were blinded to the diagnosis evaluated whether linear hyperintensity along the medial margins of the GPi was present or absent. We performed statistical analysis using the 2 …”

“…There is also frequent involvement of the internal segment of the globus pallidus (GPi), the substantia nigra, and the subthalamopallidal connections. 1 Recently, Yamada et al 2 reported that T2-weighted images (T2WI) of patients with MJD frequently showed linear hyperintensity along the GPi. This finding is helpful for diagnosing MJD, and it is important because MJD is an inherited, slowly progressive disease, and early genetic counseling is usually recommended.…”

Longitudinal study on MRI intensity changes of Machado–Joseph disease: correlation between MRI findings and neuropathological changes

“…An imaging study carried out over a lifetime might reveal the course of the disease progression. As for MJD, previous reports have noted some intensity changes detected by magnetic resonance images (MRI), which may prove helpful in revealing the neuropathological progression of MJD [6,9,10,19]. Here, we investigated MRI findings of six genetically confirmed MJD cases together with semi-quantitative assessments regarding their progression, and have compared them with neuropathological findings obtained from an autopsied case (one of six cases) to chart the course of neurodegeneration.…”

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

“…The disease is related to neuronal loss and neuronal intranuclear inclusions, detected mainly in the dentate nucleus of the cerebellum, the nucleus dorsalis of Clarke in the spinal cord, cranial motor nerve nuclei, pontine nuclei, substantia nigra, and the lenticular fasciculus of the globus pallidus (8)(9)(10)(11). Clinical manifestations usually start with cerebellar ataxia affecting gait, limb movements, speech articulation, and deglutition.…”