Progressive ataxia and palatal tremor: T1-weighted with magnetization transfer pulse hyperintensity in the inferior olivary nucleus

Abstract

Progressive ataxia and palatal tremor (PAPT) is a rare distinct clinical entity characterized by symptomatic palatal tremor associated with progressive ataxia 1,2 . Few cases have been described in literature, and MRI findings show, in most cases, cerebellar atrophy and bilateral olivary hypertrophy with signal change 1 . We report a case where MRI study at 3T demonstrated marked bilateral olivary complex hyperintensity at T1, with magnetization transfer contrast pulse (MTC) sequence, which was subtle at conventional T2 and FLAIR sequences at 1,5 and 3 T. CASEA 54-year-old male patient presented with a 10-year history of predominantly truncal ataxia manifested mainly by difficulty in climbing stairs with associated oscillopsia and spontaneous nystagmus with closed eyes. He showed significant gait instability on heel-to-toe test and also a 2Hz palatal tremor. Familial history of ataxia was negative , as well as genetic tests for spinocerebellar ataxia 1, 2, 3 and 7. Routine blood analysis, thyroid-stimulating hormone, vitamin B12 and antinuclear antibodies were normal.MRI examinations at 1,5 and 3,0 T showed only moderate cerebellar atrophy and subtle signal change in olivary nuclei on conventional FSE T1, T2 and FLAIR sequences, which were overlooked at the first report. Additional images on 3 T using FSE T1-weighted with magnetization transfer pulse (TR1000, TE 20) showed marked signal alteration of olivary complexes (Figure). DISCUSSIONProgressive ataxia and palatal tremor (PAPT) is a rare disorder more commonly found as a sporadic condition with no identifiable cause. Most cases manifest as slowly progressing ataxia, that can be associated with visual changes, dysarthria and dysphagia 1,2 . Typical MRI abnormalities are cerebellar atrophy, hypertrophy and hyperintensity at T2-weighted and proton density sequences at olivary complexes. The main differential diagnosis of sporadic PAPT is hypertrophic olivary degeneration, a

Four New Cases of Progressive Ataxia and Palatal Tremor (PAPT) and a Literature Review

“…With the lack of other seminal findings on extensive aetiological work-up, the relatively isolated clinical PAPT syndrome, the disease course, and the cerebral imaging in this patient would be consistent with case reports of patients with presumed idiopathic PAPT [6,[9][10][11][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39].…”

Adult onset sporadic ataxias: a diagnostic challenge

“…Typical neuroimaging features include hypertrophy and hyperintense signal in the olivary complexes, and cerebellar atrophy 47 . PAPT may be divided into sporadic and familial forms.…”