Brain Advance Access originally published online on April 16, 2004
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Brain, Vol. 127, No. 6, 1252-1268, 2004
© 2004 Guarantors of Brain
doi: 10.1093/brain/awh137
Progressive ataxia and palatal tremor (PAPT)
Clinical and MRI assessment with review of palatal tremors
1 Morton and Gloria Shulman Movement Disorder Centre, 2 Neuro-ophthalmology Centre and Neuro-otology Centre, Division of Neurology, Toronto Western Hospital, Department of Medicine, 3 Department of Ophthalmology, University of Toronto, Toronto, Ontario, Canada and 4 University of Minnesota, Minneapolis, USA
Correspondence to: Dr M Samuel, MRCP (UK), Department of Neurology, King’s College Hospital, Denmark Hill, London SE5 9RS, UKE-mail: mike.samuel{at}kingsch.nhs.uk
Palatal tremor has been subdivided into essential (EPT) and symptomatic palatal tremor (SPT). A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT). Published details of cases of PAPT are sparse and the disorder appears heterogeneous. We present clinical and MRI features of six patients with sporadic PAPT who attended The University Health Network between 1991 and 2002. Eye movements were recorded using a magnetic search coil technique. We review previously reported cases of PAPT from the English language literature and relate this disorder to EPT and SPT. PAPT may be divided into sporadic and familial forms. We identified 22 other prior reported cases of sporadic PAPT. Sporadic PAPT is a subtype of SPT in which progressive cerebellar degeneration is the most symptomatic feature. A combination of vertical nystagmus and palatal tremor was found in one of our cases. Internuclear ophthalmoplegia, a new finding, was present in two of our patients and indicated additional brainstem dysfunction. Inferior olivary high signal abnormalities were present on MRI in all of our cases. The cause of sporadic PAPT remains uncertain. In some previous reports of sporadic PAPT, the combination of brainstem or pontine atrophy, parkinsonism, autonomic dysfunction or corticospinal tract abnormalities suggests a diagnosis of multiple system atrophy, although pathological verification is lacking. Familial PAPT is associated with marked brainstem and cervical cord atrophy with corticospinal tract findings, but the typical olivary MRI abnormalities have not been reported. A substitution in the glial fibrillary acidic protein (GFAP) gene has been described in a family with PAPT, raising the possibility of Alexander’s disease. One other familial syndrome of PAPT, termed ‘dark dentate disease’, has also been reported. PAPT is a subgroup of SPT in which ataxia progresses and is not usually the result of a monophasic illness. Eye movement abnormalities suggest a disorder of both the cerebellum and brainstem. Familial PAPT differs from sporadic PAPT in having marked atrophy of cervical cord and brainstem with corticospinal signs but without hypertrophic olivary appearance on MRI.
Key Words: progressive ataxia; palatal tremor; eye movement
Abbreviations: EPT= essential palatal tremor; GFAP = glial fibrillary acidic protein; INO = internuclear ophthalmoplegia; OPCA = olivopontocerebellar atrophy; OPT = oculopalatal tremor; PAPT = progressive ataxia and palatal tremor; SCA = spinocerebellar ataxia; SPT = symptomatic palatal tremor; VOR = vestibulo-ocular reflex; VVOR = visually enhanced vestibulo-ocular reflex
Received August 12, 2003. Revised December 20, 2003. Accepted January 8, 2004.
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