A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation.

Howard, Richard F.; Greenwood, R; Gawler, J; Scaravilli, F; Marsden, C. D.; Harding, A. E.

doi:10.1136/jnnp.56.9.977

Cited by 33 publications

(32 citation statements)

References 26 publications

(9 reference statements)

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“…The MRI in two of these patients showed the presence of a high signal in the brain stem and periventricular region, and their biopsies revealed evidence of myelin loss and presence of Rosenthal fibers suggesting the diagnosis of Alexander's disease. 5 Similar findings were not observed in other patients but there was evidence of marked atrophy of the lower brain stem, cerebellum, and cervical spinal cord. 5,7 Our patient, unlike patients with confirmed Alexander's disease, had widespread involvement of the cranial nerves extending from the midbrain to the medulla; furthermore, the MRI did not show evidence of high signals in the periventricular region or atrophy of the cervical spinal cord.…”

Section: Discussionsupporting

confidence: 70%

“…4,5,7 However, these reports describe families with an autosomal-dominant inheritance and, in addition, they have either spastic paraparesis 4,7 or tetraparesis. 5 In our patient, the illness was sporadic and he had no pyramidal signs or either para-or tetraparesis. In two of these reports 5,7 a diagnosis of Alexander's disease, a rare familial leukodystrophy, was considered following a tissue diagnosis.…”

Section: Discussionmentioning

confidence: 96%

“…The conditions in which PT has been described in the absence of cerebellar signs are PSP, 3 an affected family member each of hereditary ataxia and spasticity, 4 and Alexander's disease. 5 In both hereditary ataxia and spasticity 4 and Alexander's disease, 5 cerebellar ataxia is commonly present. PT, when seen in families, Alexander's disease appears to be the most common cause whereas when sporadic, the cause is either OPCA or is the result of an unknown etiology.…”

Section: Discussionmentioning

confidence: 99%

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Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: A case report and review of literature of palatal tremors in neurodegenerative disease

et al. 1999

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Section: Discussionsupporting

confidence: 70%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: A case report and review of literature of palatal tremors in neurodegenerative disease

et al. 1999

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“…We decided to include only patients with genetic diagnostic confirmation and to exclude those with only neuropathological diagnosis, as Rosenthal fibres may be found in different disorders and diagnosis might be disputed (Howard et al, 1993).…”

Section: Review Of the Literaturementioning

confidence: 99%

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

Pareyson¹,

Fancellu²,

Mariotti³

et al. 2008

Brain

162

151

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Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency. AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD, as abnormalities are mainly concentrated in the brainstem^spinal cord junction. We report detailed clinical and genetic data of 11 cases of AOAD, observed over a 4 -year period, and a review of the previously reported 25 cases of genetically confirmed AOAD. In our series, onset occurred as late as age 62, and up to 71 in an affected deceased relative. Most cases appeared sporadic, but family history may be misleading.The most frequent symptoms were related to bulbar dysfunctionçwith dysarthria, dysphagia, dysphonia (seven patients)ç, pyramidal involvement (seven patients) and cerebellar ataxia (seven patients). Four patients had palatal myoclonus. Sleep disorders were also observed (four cases). Bulbar symptoms, however, were infrequent at onset and two symptomatic patients had an almost pure pyramidal involvement. Two subjects were asymptomatic. Misdiagnosis at presentation was frequent and MRI was instrumental in suggesting the correct diagnosis by showing, in all cases, mild to severe atrophy of the medulla oblongata extending caudally to the cervical spinal cord. In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP. The last typical patient carried no definitely pathogenic mutation, but a missense variant (p.D157N), supposedly a rare polymorphism. Revision of the literature and the present series indicate that the clinical picture is not specific, but AOAD must be considered in patients of any age with lower brainstem signs.When present, palatal myoclonus is strongly suggestive. Pyramidal involvement, cerebellar ataxia and urinary disturbances are common. Less frequent findings include sleep disorders and dysautonomia. Fluctuations may occur. The course is variable, usually slowly progressive and less severe than the AD forms with earlier onset. AOAD is more common than previously thought and might even be the most common form of AD. The diagnosis is strongly suggested by MRI and confirmed by GFAP gene analysis.Keywords: Alexander disease; GFAP; brainstem diseases; medulla oblongata atrophy; palatal myoclonus Abbreviations: AD = Alexander disease; AOAD = adult-onset AD; FLAIR = fluid-attenuated inversion recovery; GFAP = glial fibrillary acidic protein

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“…Rare instances of an association with Alexander’s disease and Rosenthal fibre encephalopathy [12], supranuclear palsy, and, prominent bilateral activation of the putamen [13] have been associated with PM.…”

Section: Aetiologymentioning

confidence: 99%

Palatal Myoclonus (syn. Palatal Tremor)

Pearce¹

2008

Eur Neurol

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Symptomatic palatal tremor is caused by a lesion in the triangle of Guillain and Mollaret and is associated with hypertrophic olivary degeneration that has multiple causes. Essential palatal tremor has no currently demonstrable cause and no accompanying physical or radiological signs. But it is probable that an organic genesis will become apparent. I suggest that some examples of palatal tremor may depend on an ‘upper motor neurone type’, i.e. supranuclear, lesion in the striatum or rostral brainstem releasing medullary activation with denervation hypersensitivity of olivary neurones.

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A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation.

Cited by 33 publications

References 26 publications

Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: A case report and review of literature of palatal tremors in neurodegenerative disease

Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: A case report and review of literature of palatal tremors in neurodegenerative disease

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

Palatal Myoclonus (syn. Palatal Tremor)

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