[Esophageal achalasia, sleep disorders and chorea in a tauopathy without ophthalmoplegia, parkinsonian syndrome, nor dementia (progressive supranuclear palsy?): clinicopathological study].
BACKGROUND
Progressive supranuclear palsy (PSP) is classically characterized by supranuclear ophthalmoplegia, paroxysmal imbalance with backward falling, axial dystonia, rigidity, pseudobulbar palsy and cognitive dysfunction. However, incomplete or atypical clinical presentation has been previously reported, but in all these cases, the patients had at least one of the main clinical features of the disease (ophthalmoplegia, parkinsonian syndrome or cognitive dysfunction).


METHODS
A 60-year-old woman presented with nocturnal agitation and choreiform movements. A few months later she developed severe swallowing disorders, caused by achalasia of the upper esophageal sphincter, and responsible for recurrent acute respiratory distress and pneumonia, prevailing to tracheotomy and gastrostomy. She died suddenly two years after the onset of the symptoms.


RESULTS
Postmortem examination of brain revealed a tauopathy, with deposition of abnormal phosphorylated tau in threads and in coiled-shaped as well as globose tangles in the brainstem, subthalamic nuclei and hippocampus. Nuclei of the medulla, including the vagus/solitarius complex and the region of the nucleus ambiguous were especially rich in tau positive inclusions. Ultrastructural analysis of globoid-shaped tangles in the brainstem revealed the presence of straight and paired helicoidal filaments compatible with a PSP.


CONCLUSIONS
This case contributes to improve knowledge of the clinical phenotypic range of PSP. In this case, the neuropathological lesions accounted for most of the symptoms. However, the early death of the patient was probably related to the particular distribution of the neuropathological lesions. This case suggests that the initial neuropathological changes in PSP is located in the dorsal brainstem.
Kaphan
E
E
Pôle de neurosciences cliniques, Assistance publique-Hôpitaux de Marseille, université de la Méditerranée, CHU Timone, 264, Rue St-Pierre, 13005 Marseille, France. elsa.kaphan@mail.ap-hm.fr
Pellissier
J-F
JF
Rey
M
M
Robert
D
D
Auphan
M
M
Ali Chérif
A
A
D002819:Chorea / Q000150:complications / Q000473:pathology*; D003680:Deglutition Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D004931:Esophageal Achalasia / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007002:Hypoglossal Nerve / Q000473:pathology; D002479:Inclusion Bodies / Q000473:pathology; D008875:Middle Aged; D011859:Radiography; D012128:Respiratory Distress Syndrome / Q000209:etiology / Q000601:surgery; D012893:Sleep Wake Disorders / Q000150:complications / Q000473:pathology*; D013378:Substantia Nigra / Q000473:pathology; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000473:pathology*; D014139:Tracheostomy