トットリケン イワミチョウ ノ サンイン カイガン カイヒン ニ オケル ウスバカゲロウ ルイ ノ ブンプ

鳥取県岩美町の7つの砂浜と鳥取砂丘東端の海岸砂丘でウスバカゲロウ幼虫（アリジゴク）の分布を調査した。鳥取砂丘でみられる 種（ハマベウスガカゲロウ，クロコウスバカゲロウ，オオウスバカゲロウ，コカスリウスバカゲロウ）のうち，岩美町ではハマベウスガカゲロウをのぞく3種が出現した。小礫～中礫の礫浜または極粗砂の砂浜である鴨ヶ磯と城原海岸ではいずれの種も確認できなかった。鳥取砂丘と岩美町内の海浜の間に砂浜の粒径には大きな差はなく，岩美町内の砂浜でハマベウスバカゲロウがみられない理由は粒径では説明できない。ハマベウスバカゲロウの既知生息地との比較から，海浜の規模が小さいことと，砂丘の形成が弱いことがハマベウスバカゲロウを欠く理由と推測された。 We surveyed distribution of antlions (larvae of Myrmeleontidae) in 14 sites from 7 sandy beaches in Iwami-cho, easternmost town of Tottori Prefecture and Tottori Sand Dunes. Of the four species (Myrmeleon solers, M. bore, Heoclisis japonica, Distoleon contubernalis) known from Tottori Sand Dunes, three species excluding a pit-building species M. solers were found to occur in the Iwami-cho. No species were found in Kamogaiso Beach and Shirawara Beach that are pebble to cobble or very coarse sandy beaches. Absence of M. solers in beaches in Iwami-cho cannot be explained by sand grain size because there were no significant differences between Tottori Sand Dunes and beaches in Iwami-cho. Comparison with beaches where occurrence of M. solers has been reported and beaches in Iwami-cho suggested shorter coast lines and lower development of sand dunes behind beaches in Iwami-cho may explain the absence of the species in Iwami-cho

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Autosomal-recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous disorders associated with diverse neurological and nonneurological features that occur before the age of 20. Currently, mutations in more than 20 genes have been identified, but approximately half of the ARCA patients remain genetically unresolved. In this report, we describe a Japanese family in which two siblings have slow progression of a type of ARCA with psychomotor retardation. Using whole-exome sequencing combined with homozygosity mapping, we identified a homozygous missense mutation in SYT14, encoding synaptotagmin XIV (SYT14). Expression analysis of the mRNA of SYT14 by a TaqMan assay confirmed that SYT14 mRNA was highly expressed in human fetal and adult brain tissue as well as in the mouse brain (especially in the cerebellum). In an in vitro overexpression system, the mutant SYT14 showed intracellular localization different from that of the wild-type. An immunohistochemical analysis clearly showed that SYT14 is specifically localized to Purkinje cells of the cerebellum in humans and mice. Synaptotagmins are associated with exocytosis of secretory vesicles (including synaptic vesicles), indicating that the alteration of the membrane-trafficking machinery by the SYT14 mutation may represent a distinct pathomechanism associated with human neurodegenerative disorders

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Myoclonus-dystonia syndrome (MDS) is a rare autosomal-dominant movement disorder characterized by brief, frequently alcohol-responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the ε-sarcoglycan gene (SGCE). The patient was a 6-year-old boy. At 2 years 8 months, he had abnormal movement when he ran due to dystonia of his left leg. At 3 years 5 months, he exhibited dystonia and myoclonic movement of his arms when eating. Myoclonus was likely to develop when he felt anxiety or exhaustion. Genomic DNA showed a heterozygous mutation in SGCE (c.109 + 1 G > T). His father and uncle with the same mutation also experienced milder dystonia or myoclonic movements. SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements