干旱区生态环境知识资源中心(Arid): Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH

Arid

DOI	10.1111/jns.12417
	Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH
	Boso, Federica; Zanette, Giampietro; Baldinotti, Fulvia; Bertelloni, Silvano; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana
通讯作者	Fabrizi, GM
来源期刊	JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
ISSN	1085-9489
EISSN	1529-8027
出版年	2020
卷号	25 期号:4 页码:423-428
英文摘要	Minifascicular neuropathy (MN) is a rare, autosomal recessive disease with prominent structural changes of peripheral nerves. So far, it has been observed in females with a 46,XY karyotype and mutations of the Desert Hedgehog (DHH) gene, thus linking MN to gonadal dysgenesis (GD) and disorders of sex development (DSD). However, a 46,XX proband with normal female sex and gender development underwent clinical evaluations, nerve conduction studies and genetic screening for a severe motor-sensory neuropathy with a pathological phenotype that hinted at MN. Indeed, sural nerve biopsy revealed a profound disturbance of perineurium development with a thin and loose structure. High-resolution ultrasound (HRUS) also disclosed diffuse changes of nerve echotexture that visibly correlated with the pathological features. After extensive genetic testing, a novel homozygous DHH null mutation (p.Ser185*) was identified in the proband and in her sister, who was affected by a similar motor-sensory neuropathy, but was eventually found to be a 46,XY patient according to a late diagnosis of DSD with complete GD. DHH should therefore be considered as a possible cause of rare non-syndromic hereditary motor-sensory neuropathies, regardless of DSD. Furthermore, HRUS could effectively smooth the complex diagnostic workup as it demonstrated a high predictive power to detect MN, providing the same detailed correlations to the pathologic features of the nerve biopsy and Dhh-/- mice in both sisters. Hence, HRUS may assume a pivotal role in guiding molecular analysis in individuals with or without DSD.
英文关键词	Desert Hedgehog gonadal dysgenesia inherited neuropathy minifascicular neuropathy nerve ultrasound
类型	Article
语种	英语
收录类别	SCI-E
WOS记录号	WOS:000584924500001
WOS关键词	46,XY GONADAL-DYSGENESIS ; DESERT-HEDGEHOG GENE ; MUTATION ; SOX10
WOS类目	Clinical Neurology ; Neurosciences
WOS研究方向	Neurosciences & Neurology
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/327258
作者单位	[Boso, Federica; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana] Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy; [Boso, Federica; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana] Azienda Osped Univ Integrata Verona, Neurol Div, Verona, Italy; [Zanette, Giampietro] Pederzoli Hosp, Neurol Div, Verona, Italy; [Baldinotti, Fulvia] Azienda Osped Univ Pisana, Dept Lab Med, Lab Mol Genet, Pisa, Italy; [Bertelloni, Silvano] Azienda Osped Univ Pisana, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pediat Div, Pisa, Italy
推荐引用方式 GB/T 7714	Boso, Federica,Zanette, Giampietro,Baldinotti, Fulvia,et al. Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH[J],2020,25(4):423-428.
APA	Boso, Federica.,Zanette, Giampietro.,Baldinotti, Fulvia.,Bertelloni, Silvano.,Taioli, Federica.,...&Cavallaro, Tiziana.(2020).Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM,25(4),423-428.
MLA	Boso, Federica,et al."Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH".JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 25.4(2020):423-428.