Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis

被引：8

作者：

Barghigiani, Melissa ^{[2
]}

De Michele, Giovanna ^{[1
]}

Tessa, Alessandra ^{[2
]}

Fico, Tommasina ^{[1
]}

Natale, Gemma ^{[2
]}

Sacca, Francesco ^{[1
]}

Pane, Chiara ^{[1
]}

Cuomo, Nunzia ^{[1
]}

De Rosa, Anna ^{[1
]}

Pappata, Sabina ^{[3
]}

De Michele, Giuseppe ^{[1
]}

Santorelli, Filippo M. ^{[2
]}

Filla, Alessandro ^{[1
]}

机构：

[1] Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Via Sergio Pansini, I-80131 Naples, Italy

[2] Ist Ricovero & Cura Carattere Sci IRCCS, Fdn Stella Maris, Pisa, Italy

[3] CNR, Inst Biostruct & Bioimaging, Naples, Italy

来源：

JOURNAL OF NEUROLOGY | 2022年 / 269卷 / 10期

关键词：

CANVAS; MSA; SAOA; RFC-1; Heterozygotes; Disease progression; BIALLELIC EXPANSION; REPEAT EXPANSION; COMMON-CAUSE;

D O I：

10.1007/s00415-022-11192-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We screened 62 late-onset ataxia patients for the AAGGG pathological expansion in the RFC-1 gene that, when biallelic, causes Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). Nine patients tested positive. Six had a previous diagnosis of sporadic adult-onset ataxia (SAOA) and three of multisystem atrophy type C (MSA-C). Further six patients were heterozygous for the pathological RFC-1 expansion, four with an initial diagnosis of MSA-C and two of SAOA. In comparison with CANVAS, MSA-C patients had faster progression and shorter disease duration to walking with aids. An abnormal DaTscan does not seem to contribute to differential diagnosis between CANVAS and MSA-C.

引用

页码：5431 / 5435

页数：5

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