Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy

被引：29

作者：

Tojo, Kana ^{[1
]}

Tsuchiya-Suzuki, Ayako ^{[1
]}

Sekijima, Yoshiki ^{[1
]}

Morita, Hiroshi ^{[1
]}

Sumita, Naoko ^{[2
]}

Ikeda, Shu-Ichi ^{[1
]}

机构：

[1] Shinshu Univ, Sch Med, Dept Neurol & Rheumatol, Matsumoto, Nagano 3908621, Japan

[2] Saitama Med Sch, Dept Neurol, Moroyama, Saitama 35004, Japan

来源：

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS | 2010年 / 17卷 / 01期

关键词：

Carpal tunnel syndrome; familial amyloid polyneuropathy; Val30Met; PRIMARY SYSTEMIC AMYLOIDOSIS; BILATERAL CARPAL; TRANSTHYRETIN; JAPAN; FORM; FEATURES; SERUM;

D O I：

10.3109/13506121003619369

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We report here two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome (CTS). In both patients systemic TTR amyloidosis consisting of polyneuropathy affecting both upper and lower limbs and/or autonomic dysfunction gradually appeared after surgery for CTS. Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms. It is also notable that both patients had no genealogical relationship with two Japanese endemic foci of this disease.</.

引用

页码：32 / 35

页数：4

共 40 条

[21] Cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy [J].

Haruki Koike ;

Tomohiko Nakamura ;

Atsushi Hashizume ;

Ryoji Nishi ;

Shohei Ikeda ;

Yuichi Kawagashira ;

Masahiro Iijima ;

Masahisa Katsuno ;

Gen Sobue .

Journal of Neurology, 2017, 264 :2293-2302

[22] Cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy [J].

Koike, Haruki ;

Nakamura, Tomohiko ;

Hashizume, Atsushi ;

Nishi, Ryoji ;

Ikeda, Shohei ;

Kawagashira, Yuichi ;

Iijima, Masahiro ;

Katsuno, Masahisa ;

Sobue, Gen .

JOURNAL OF NEUROLOGY, 2017, 264 (11) :2293-2302

[23] Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation [J].

Koyama, S. ;

Kawanami, T. ;

Kurokawa, K. ;

Tanji, H. ;

Iseki, C. ;

Arawaka, S. ;

Wada, M. ;

Kato, T. .

CLINICAL NEUROLOGY AND NEUROSURGERY, 2012, 114 (06) :707-709

[24] A Case of Familial Amyloid Polyneuropathy due to Phe33Val TTR with Vitreous Involvement as the Initial Manifestation [J].

Kono, Syoichiro ;

Manabe, Yasuhiro ;

Tanaka, Tomotaka ;

Fujii, Daiki ;

Sakai, Yasuko ;

Narai, Hisashi ;

Omori, Nobuhiko ;

Ueda, Mitsuharu ;

Ando, Yukio ;

Abe, Koji .

INTERNAL MEDICINE, 2010, 49 (12) :1213-1216

[25] Trigger finger as an initial manifestation of familial amyloid polyneuropathy in a patient with Ile107Val TTR [J].

Uotani, Kyotaro ;

Kawata, Akihiro ;

Nagao, Masahiro ;

Mizutani, Toshio ;

Hayashi, Hideaki .

INTERNAL MEDICINE, 2007, 46 (08) :501-504

[26] Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant [J].

Palácios, SA ;

Bittencourt, PL ;

Cançado, ELR ;

Farias, AQ ;

Massarollo, PCB ;

Mies, S ;

Kalil, J ;

Goldberg, AC .

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1999, 6 (04) :289-291

[27] VITREOUS AMYLOIDOSIS IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - REPORT OF A CASE WITH THE VAL30MET TRANSTHYRETIN MUTATION [J].

CIULLA, TA ;

TOLENTINO, F ;

MORROW, JF ;

DRYJA, TP .

SURVEY OF OPHTHALMOLOGY, 1995, 40 (03) :197-206

[28] Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas [J].

Koike, Haruki ;

Tanaka, Fumiaki ;

Hashimoto, Rina ;

Tomita, Minoru ;

Kawagashira, Yuichi ;

Iijima, Masahiro ;

Fujitake, Junko ;

Kawanami, Toru ;

Kato, Takeo ;

Yamamoto, Masahiko ;

Sobue, Gen .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (02) :152-158

[29] Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: A case report [J].

Dias-Santos A. ;

Ferreira J. ;

Cunha J.P. .

Journal of Medical Case Reports, 8 (1)

[30] The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS(C)) [J].

Pruppers, Marielle H. J. ;

Merkies, Ingemar S. J. ;

Faber, Catharina G. ;

Da Silva, Ana M. ;

Costa, Vanessa ;

Coelho, Teresa .

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (03) :319-327

← 1 2 3 4 →