A 44 year old right handed woman complained of difficulty in moving. She and her relatives had skin telangiectasia or recurrent epistaxis. On neurological examination, she had a mask-like facies and bradykinesia in both extremities. Laboratory examinations showed iron deficiency anaemia and mild liver dysfunction with raised serum manganese. On T1 weighted cranial magnetic resonance imaging there were hyperintense areas in the globus pallidus bilaterally, suggesting manganese deposition. Abdominal angiography confirmed multiple portalsystemic shunts in the liver, and a needle biopsy of the liver showed diffuse dilatation of the sinusoids with fatty change. Levodopa did not improve the bradykinesia. This appears to be a case of hereditary haemorrhagic telangiectasia with manganese induced parkinsonism, which may be a new type of neurological disorder in such patients.H ereditary haemorrhagic telangiectasia, or Rendu-OslerWeber disease, was first reported by Rendu in 1896 as a systemic vascular disorder with idiopathic epistaxis and skin telangiectasia.1 It is now known to be caused by an abnormality of transforming growth factor β binding proteins, and the patients show hereditary systemic vascular disorders in an autosomal dominant fashion with a high penetrance of 97% by the age of 50 years.2 Recurrent epistaxis or bleeding in the gastrointestinal tract during adolescence is the first symptom of the disease. In the fourth or fifth decade of life, chronic anaemia after recurrent haemorrhage, congestive heart failure caused by pulmonary arteriovenous fistulae, or liver dysfunction associated with portal-systemic shunting become evident, depending on the amount and localisation of the vascular abnormalities.From the viewpoint of neurologists, the disease is interesting for its variety of complications in the central nervous system-paradoxical brain embolism or brain abscess in cases of pulmonary arteriovenous fistula (right to left shunt type, 61%); intracerebral haemorrhage or epilepsy in cases with arteriovenous malformations of the brain (parenchymal AVM type, 36%); and hepatic coma with progression of portalsystemic shunt (porto-systemic shunt type, 3%). In this study we present a patient with hereditary haemorrhagic telangiectasia with manganese induced parkinsonism. We propose that parkinsonism is a new neurological complication in this disease. CASE REPORTA 44 year old right handed woman consulted the neurological clinic because of difficulty in moving. This was especially marked during fine finger movements or in agility exercises. The symptom was insidious and had progressed over 12 months. She was a housewife and had never been exposed to manganese or its compounds. She did not smoke or drink. At the age of 40 years, duodenal ulcer and iron deficiency anaemia were diagnosed. There were no similar symptoms among her relatives. However, the patient, her father, and her younger brother all had skin or mucosal telangiectasia, and her son had experienced recurrent epistaxis, suggesting an autosomal dominant v...

The dorsal marginal zone (DMZ) of an amphibian early gastrula is thought to consist of at least two distinct domains: the future head and trunk-tail organizers. We studied the mechanism by which the organizing activities of the lower half of the DMZ (LDMZ) of the urodelean (Cynops pyrrhogaster) embryo are changed. The uninvoluted LDMZ induces the notochord and then organizes the trunk-tail structures, whereas after cultivation in vitro or suramin treatment, the same LDMZ loses the notochord-inducing ability and organizes the head structures. A cell-lineage experiment indicated that the change in the organizing activity of the LDMZ was reflected in the transformation of the inductive ability: from notochord-inducing to neural-inducing activity. Using RT-PCR, we showed that the LDMZ expressed gsc, lim-1, chordin, and noggin, but not the mesoderm marker bra. In the sandwich assay, the LDMZ induced bra expression in the animal cap ectoderm, but the inductive activity was inhibited by cultivation or suramin treatment. The present study indicates that the change in the organizing activity of the LDMZ from trunk-tail to head is coupled with the loss of notochord-inducing activity. Based on these results, we suggest that this change is essential for the specification of the head and trunk-tail organizers during gastrulation.

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