Facial Onset Sensory and Motor Neuronopathy New Cases, Cognitive Changes, and Pathophysiology

被引：16

作者：

de Boer, Eva M. J. ^{[1
]}

Barritt, Andrew W. ^{[2
,3
]}

Elamin, Marwa ^{[2
,3
]}

Anderson, Stuart J. ^{[3
]}

Broad, Rebecca ^{[2
,3
]}

Nisbet, Angus ^{[3
]}

Goedee, H. Stephan ^{[1
]}

Costa, Juan F. Vazquez ^{[4
,5
]}

Prudlo, Johannes ^{[6
,7
]}

Vedeler, Christian A. ^{[8
,9
]}

Fernandez, Julio Pardo ^{[10
]}

Panades, Monica Povedano ^{[11
]}

Aguilo, Maria A. Alberti ^{[11
]}

Dalla Bella, Eleonora ^{[12
]}

Lauria, Giuseppe ^{[12
,13
]}

Pinto, Wladimir B. V. R. ^{[14
]}

de Souza, Paulo V. S. ^{[14
]}

Oliveira, Acary S. B. ^{[14
]}

Toro, Camilo ^{[15
]}

van Iersel, Joost ^{[1
]}

Parson, Malu ^{[1
]}

Harschnitz, Oliver ^{[16
]}

van den Berg, Leonard H. ^{[1
]}

Veldink, Jan H. ^{[1
]}

Al-Chalabi, Ammar ^{[17
]}

Leigh, Peter N. ^{[2
,18
]}

van Es, Michael A. ^{[1
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Neurol, Utrecht, Netherlands

[2] Brighton & Sussex Med Sch, Clin Imaging Sci Ctr, Brighton, E Sussex, England

[3] Hurstwood Pk Neurol Ctr, Haywards Heath, England

[4] Hosp Univ & Politecn La Fe, ALS Unit, Dept Neurol, Valencia, Spain

[5] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[6] Rostock Univ, Med Ctr, Dept Neurol, Rostock, Germany

[7] German Ctr Neurodegenerat Dis DZNE, Rostock, Germany

[8] Haukeland Hosp, Dept Neurol, Bergen, Norway

[9] Dept Clin Med, Bergen, Norway

[10] Hosp Clin Univ Santiago, Dept Neurol, Santiago, Spain

[11] Hosp Univ Bellvitge, Dept Neurol, Barcelona, Spain

[12] Fdn IRCCS Inst Neurol Carlo Bests, ALS MND Ctr, Neurol Unit 3, Milan, Italy

[13] Univ Milan, Dept Biomed & Clin Sci Luigi Sacco, Milan, Italy

[14] Fed Univ Sao Paulo UNIFESP, Dept Neurol & Neurosurg, Sao Paulo, Brazil

[15] NHGRI, NIH, Bethesda, MD 20892 USA

[16] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA

[17] Kings Coll Hosp NHS Fdn Trust, London, England

[18] Brighton & Sussex Med Sch, Dept Neurosdence, Brighton, E Sussex, England

来源：

NEUROLOGY-CLINICAL PRACTICE | 2021年 / 11卷 / 02期

基金：

美国国家卫生研究院; 英国医学研究理事会;

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; FOSMN SYNDROME; DISEASE; PATHOLOGY; PATIENT; BRAIN;

D O I：

10.1212/CPJ.0000000000000834

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Purpose of Review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent Findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases. Summary FOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis-FTD spectrum.

引用

页码：147 / 157

页数：11

共 22 条

[21] TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: An autopsied case report and a review of the literature
Sonoda, Keita
Sasaki, Kensuke
Tateishi, Takahisa
Yamasaki, Ryo
Hayashi, Shintaro
Sakae, Nobutaka
Ohyagi, Yasumasa
Iwaki, Toru
Kira, Jun-ichi
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 332 (1-2) : 148 - 153
[22] Brain structural and perfusion changes in amyotrophic lateral sclerosis-frontotemporal dementia patients with cognitive and motor onset: a preliminary study
Wang, Yanying
Shen, Dongchao
Hou, Bo
Sun, Xiaohan
Yang, Xunzhe
Gao, Jing
Liu, Mingsheng
Feng, Feng
Cui, Liying
BRAIN IMAGING AND BEHAVIOR, 2022, 16 (05) : 2164 - 2174

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