Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case

Stamelou, María; Adams, Matthew; Davagnanam, Indran; Batla, Amit; Sheerin, Una Marie; Talbot, Kevin; Bhatia, Kailash P.

doi:10.1002/mds.25310

Cited by 5 publications

(4 citation statements)

References 17 publications

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“…The pathophysiological importance of the spino‐olivary pathways in the generation of PT after DROP injury occurs has been discussed elsewhere . Dense pontine calcification, a lesion that could interrupt the dentate‐olivary pathway, though not observed in our case, has been recently reported in PAPT . An excellent model to explain PT has been proposed …”

Section: Discussionsupporting

confidence: 54%

“…22 Dense pontine calcification, a lesion that could interrupt the dentate-olivary pathway, though not observed in our case, has been recently reported in PAPT. 37 An excellent model to explain PT has been proposed. 38 Nearly all the unique pathological features consistent with transneuronal hypertrophic degeneration of the olives were observed in our case, with two important features: (1) numerous tau-positive neuronal cytoplasmic inclusions and (2) symmetric bilateral involvement of the olives, without gross dentate, superior cerebellar peduncular, or CTT pathology.…”

Section: Discussionmentioning

confidence: 99%

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Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy

Mari

Halls

Vortmeyer

et al. 2014

Mov Disord Clin Pract

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Palatal tremor (PT) is an uncommon movement disorder that has been subdivided into essential and symptomatic forms. A distinct subgroup of the symptomatic form presents with progressive ataxia and PT. The histopathology of progressive ataxia and PT has not been previously determined. This study consisted of a clinical review, histopathology, and electron microscopy of the brain of a man with progressive ataxia and PT. The inferior olivary hypertrophy was symmetrical and homogenous, and no focal pathologic lesions could be identified in the brainstem. Insoluble tau deposits were found in neurons, exclusively infratentorially. We present the clinical and pathological evaluation of a case of progressive ataxia and PT that provide evidence for a unique form of 4R tauopathy.Keywords: neurodegenerative disorders, neuropathology, ataxia, tremor.Symptomatic palatal tremor (SPT) may develop as a result of brainstem or cerebellar pathology involving the pathway between the dentate nucleus and inferior olive (IO), two sides of the "Guillain-Mollaret triangle."1,2 The dentato-(rubro)-olivary pathway (DROP) originates from the dentate on one side, passes within the superior cerebellar peduncle, crosses over to the contralateral side, circles around the red nucleus (without rubral synaptic relay), and then joins the central tegmental tract to the IO. Associated with injuries in these pathways, inferior olivary hypertrophy (IOH) can develop as a result of trans-synaptic degeneration. Etiology of PAPT has not been determined and no pathological evaluation of cases has been reported in the literature.We report here on the first case of PAPT with histologically proven, unique 4R tau pathology. Patient and Methods Case ReportA Caucasian right-handed man first developed dysarthria and falls at the age of 63. In addition to the imbalance, his gait was noted to be wide based. He also had abnormal limb coordination and hand tremor. After years of relatively slow progression, his symptoms seemed to plateau. He had mouth angle twitching, which was later confirmed to correlate with his palatal tremor (PT). On specific request by physicians, the patient's wife observed that the facial twitching continued in sleep. His first neurological exam, approximately 1 year after symptom onset, was conducted by a community neurologist and was incomplete, but was significant for dysarthric speech, postural hand tremor, titubation, PT without ear clicks, dyssynergia on finger-to-nose testing, and an ataxic respiratory pattern. There was neither nystagmus nor gaze palsy. His initial workup

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Section: Discussionsupporting

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy

Mari

Halls

Vortmeyer

et al. 2014

Mov Disord Clin Pract

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“…A single persistent lesion within the Guillain-Mollaret triangle (usually haemorrhage, cavernoma, or vascular malformation) can occasionally lead to PAPT syndrome [12][13][14]. Pathophysiologically, it is speculated that superficial or intraparenchymal hemosiderin accumulation might lead to iron-associated neurodegeneration [12], leading to progressive symptoms.…”

Section: Patientmentioning

confidence: 99%

“…For many sporadic PAPT cases, a neurodegenerative aetiology is postulated [6,[9][10][11]; however, some patients with structural brain lesions or autoimmune diseases were reported to develop PAPT as well [12][13][14][15][16]. Furthermore, rare genetic mutations can manifest with PAPT syndrome (familial PAPT), amongst other symptoms [17][18][19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

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

Silimon,

Wiest,

Bassetti

2023

CTN

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PAPT syndrome is a rare neurologic disorder characterized by progressive ataxia and palatal tremor (rhythmic movements of the soft palate). The first large study of PAPT patients was published in 2004, included a total of 28 sporadic PAPT cases, and suggested a neurodegenerative origin. In the last several years, case reports and small case series followed, underlining the heterogeneity of the clinical picture and underlying aetiology (including neurodegenerative, vascular, infectious/autoimmune, and genetic). As a contribution to the literature, we report on four new patients with PAPT syndrome from Bern. Our study highlights the diverse clinical presentation (pyramidal, extrapyramidal, bulbar, cognitive, psychiatric symptoms, and autonomic features), summarizes the known literature, and extends it by findings on sleep studies (obstructive/central sleep apnoea, sleep disturbance). Possible aetiologies and management aspects are discussed in light of the current literature.

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Cranial nerve VI (Abducens nerve) paresis associated with pontine calcification

Borgman

2021

Clinical and Experimental Optometry

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Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case

Cited by 5 publications

References 17 publications

Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy

Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy

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

Cranial nerve VI (Abducens nerve) paresis associated with pontine calcification

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