Neuroacanthocytosis syndrome, apraxia of eyelid opening, and progressive supranuclear palsy

Bonaventura, I; Matías‐Guiu, Jordi A.; Cervera, Carlos; Puiggrós, Agustín Codina

doi:10.1212/wnl.36.9.1276-a

Cited by 8 publications

(1 citation statement)

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“…3,6,7 Orofacial dyskinesia often leads to tongue and lip biting and dysphagia. Epileptic seizures and cognitive as well as psychopathological abnormalities are also seen.…”

Section: Introductionmentioning

confidence: 99%

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson‐Stone

Danek

Rampoldi³

et al. 2002

Eur J Hum Genet

145

123

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Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/ deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.

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“…3,6,7 Orofacial dyskinesia often leads to tongue and lip biting and dysphagia. Epileptic seizures and cognitive as well as psychopathological abnormalities are also seen.…”

Section: Introductionmentioning

confidence: 99%

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson‐Stone

Danek

Rampoldi³

et al. 2002

Eur J Hum Genet

145

123

View full text Add to dashboard Cite

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Parkinsonism and extraocular motor abnormalities with unusual neuropathological findings

Calabrese

Hadfield²

1991

Movement Disorders

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Parkinsonian patients with ocular motility abnormalities are usually considered to have progressive supranuclear palsy. However, a number of other conditions have been noted to have the combination of parkinsonism and ocular problems. We report a case of rigid akinetic parkinsonism, oculomotor palsy, and eyelid apraxia with postmortem examination. Our findings are unusual in that there was marked gliosis of the substantia nigra with a large amount of free extracellular neuromelanin despite a 3-year clinical course. Only rare hyaline inclusion bodies and no neurofibrillary tangles were seen in the brainstem. Excessive calcification of the vessels of the globus pallidus were also noted. This case represents another example of the diversity of conditions producing parkinsonism with extraocular motor abnormalities.

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