Makoto Uchino

Familial amyloid polyneuropathy (FAP), a fatal disorder inherited in an autosomal dominant fashion, is characterized by systemic accumulation of polymerized transthyretin (TTR) in the peripheral nerves and systemic organs. Polyneuropathy is often a major manifestation of FAP. Although FAP was considered to be an endemic disorder, the advanced biochemical and molecular genetic analyses have shown worldwide occurrence. More than 100 different points of single or double mutations, or a deletion in the TTR gene, have been reported, and several different phenotypes of FAP have been documented, even for the same mutation in the TTR gene. Liver transplantation, which stops the production of amyloidogenic TTR in blood and replaces it with normal TTR, has been considered as an acceptable treatment for FAP. However, continuous amyloid deposition can occur from wild-type (normal) TTR in some patients. Currently, research an the inhibition of amyloid deposition by small organic molecules that are hypothesized to affect the fibril-forming ability of TTR is underway.

We present a case of a patient with clinically definite ALS, who had earlier suffered from Kartagener syndrome, which is characterized by the triad comprising chronic sinusitis, bronchiectasis, and situs inversus. Recent linkage and mutational analyses identified several genes that are responsible for Kartagener syndrome. Most of them encode subunits of axonemal dyneins, highlighting the importance of dynein motors to ciliary motility. Recent data indicate that defects in cytoplasmic dynein-mediated retrograde axonal transport are involved in the etiology of ALS. Genes encoding the dynein heavy chain of cytoplasmic and outer arm axonemal dyneins are reported to have similar sequences in their central and 3'-end regions. Although a causal link between ALS and Kartagener syndrome has not yet been definitely established, the precise relationship between disrupted axonemal dynein function in Kartagener syndrome and motor neuron death should be investigated.

A 19-year-old man noticed a severe tingling pain associated with eye movement six days after the onset of a mild gait disturbance. The pain disappeared when his eyes were still. Physical examination revealed a full range of eye movements (although there was diplopia), mild muscle weakness in the extremities, ataxia, decreased vibration sense and areflexia. Serum anti-GA1 IgG was strongly positive, and anti-GM1 and GQ1b IgG were weakly positive. He was diagnosed with Miller Fisher syndrome and treated with intravenous immunoglobulin, whereupon his symptoms, including the tingling pain, improved within a week.

The usefulness and safety of coronary flow velocity reserve (CFVR) in patients with acute ischemic stroke were examined. We studied 36 patients with acute ischemic stroke. Transthoracic Doppler recording of diastolic coronary flow velocity was performed at baseline and after maximal vasodilation by adenosine triphosphate infusion. CFVR was defined as the ratio of hyperemic to basal averaged peak coronary flow velocity. Patients with CFVR <2.1 were assigned in Positive group. Fourteen patients had impaired CFVR. Age over 70 years and arterial stenosis were more frequent in the Positive group. In the Positive group, 11 underwent coronary angiography; 9 of them had some abnormal findings. The positive predictive value of impaired CFVR for detecting coronary artery disease was 82%. CFVR is useful for detecting coronary heart disease in stroke patients, and may be indicated in patients over 70 years or in those with arterial stenosis.

Influenza virus-associated encephalitis/encephalopathy is a severe childhood illness with a poor prognosis. Adult case reports are rare and, to date, there have been no reports of adults with a mild subcortical encephalopathy with reversible lesions of the corpus callosum splenium.