A Rare Case of Progressive Ataxia with Palatal Tremors

Palatal tremors are subdivided into essential (EPT) and symptomatic (SPT) forms according to clinical and etiological features.A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT).PAPT may be divided into sporadic and familial forms.In sporadic PAPT patients typically have olivary hypertrophy and increases signal intensity on T2-weighted MRI and progressive cerebellar degeneration.Familial form shows marked atrophy of cervical cord and brainstem with corticospinal signs, the hypertrophic olivary appearance on MRI will be absent.Few clinical features and MRI characteristics can help in differentiating familial and sporadic form even when genetic tests are inconclusive.Here we describe a rare case of Progressive Ataxia with Palatal Tremors(PAPT) with features suggestive of familial form with inconclusive genetic tests.

Publication Details

Journal
Acta Scientific Neurology
Published
2025-10-01
DOI
https://doi.org/10.31080/asne.2025.08.0870
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
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article

A Rare Case of Progressive Ataxia with Palatal Tremors

Acta Scientific Neurology
Glycogen Storage Diseases and Myoclonus
article

A Rare Case of Progressive Ataxia with Palatal Tremors

article en

Abstract

Palatal tremors are subdivided into essential (EPT) and symptomatic (SPT) forms according to clinical and etiological features.A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT).PAPT may be divided into sporadic and familial forms.In sporadic PAPT patients typically have olivary hypertrophy and increases signal intensity on T2-weighted MRI and progressive cerebellar degeneration.Familial form shows marked atrophy of cervical cord and brainstem with corticospinal signs, the hypertrophic olivary appearance on MRI will be absent.Few clinical features and MRI characteristics can help in differentiating familial and sporadic form even when genetic tests are inconclusive.Here we describe a rare case of Progressive Ataxia with Palatal Tremors(PAPT) with features suggestive of familial form with inconclusive genetic tests.

Acta Scientific Neurology
Openalex Percentile: Top 59%
Glycogen Storage Diseases and Myoclonus
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