Article
Clinical Neurology
Serena Zampino, Farooq H. Sheikh, Joban Vaishnav, Daniel Judge, Baohan Pan, Amrita Daniel, Emily Brown, Gigi Ebenezer, Michael Polydefkis
Summary: This study describes the neurological and cardiac characteristics of common US ATTR mutations V122I, L58H, and late-onset V30M in patients with hereditary transthyretin amyloidosis. The results indicate that there are clinical differences among these mutations, including age of onset, sex distribution, neurological impairment scores, and cardiac indicators. These findings have important implications for the diagnosis and clinical management of ATTR mutations.
Article
Biochemistry & Molecular Biology
Miguel Alves-Ferreira, Ana Azevedo, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Summary: This study identified 11 rare variants associated with the age-at-onset of symptoms in Portuguese ATTRV30M carriers. The findings suggest that variants within the TTR gene may play a role in modifying disease expressivity and warrant further exploration as potential therapeutic targets in the future.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Tatsufumi Murakami, Takeshi Yokoyama, Mineyuki Mizuguchi, Shigenobu Tone, Shizuka Takaku, Kazunori Sango, Hirotake Nishimura, Kazuhiko Watabe, Yoshihide Sunada
Summary: In this study, features of FAP with E61K TTR substitution were characterized, showing low amyloidogenic properties in vitro and in vivo. Apoptotic cells were observed in the nerve of patients, and chromatin condensation was confirmed in Schwann cells by electron microscopy. These findings suggest that E61K TTR may not contribute significantly to amyloid fibril formation, but Schwann cell apoptosis could be related to neurodegeneration in FAP.
JOURNAL OF NEUROCHEMISTRY
(2021)
Article
Medicine, General & Internal
Shun Wang, Jingping Sun, Qun Lu, Hao Li, Yun Zhang
Summary: Patients with late-onset transthyretin Val30Met-associated hereditary transthyretin amyloidosis have diverse clinical presentations and diagnosing the disease is challenging. Echocardiography and genetic testing play vital roles in the diagnosis.
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL
(2022)
Article
Multidisciplinary Sciences
Takahiro Kawaji, Tomoki Sato
Summary: We retrospectively evaluated the surgical outcomes of ab interno suture trabeculotomy (SLOT) for secondary glaucoma in patients with hereditary transthyretin amyloidosis. The results suggest that SLOT ab interno may not have sufficient long-term effects on secondary glaucoma due to ATTRv amyloidosis.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Farida Gorram, Malin Olsson, Flora Alarcon, Gregory Nuel, Intissar Anan, Violaine Plante-Bordeneuve
Summary: The study analyzed 114 ATTRV30M Swedish families and found that there is increased anticipation and penetrance in cases of maternal inheritance and in male patients. In heterozygous ATTRV30M kindred, penetration was found to be low initially but increased with age.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Kristin Samuelsson, Ana Jovanovic, Karl Egervall, Intissar Anan, Jonas Wixner, Rayomand Press
Summary: This study aimed to compare the differences in diagnostic delay, disease phenotypes, treatment, and survival between a non-endemic and endemic region of hereditary transthyretin amyloidosis (ATTRv) in Sweden. The results showed that there was a longer diagnostic delay in Stockholm compared to Vasterbotten. The most common reason for the delay was negative tissue biopsies.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2022)
Article
Multidisciplinary Sciences
Intissar Anan, Ole B. Suhr, Katarzyna Liszewska, Jorge Mejia Baranda, Bjorn Pilebro, Jonas Wixner, Elisabet Ihse
Summary: The study shows that the composition of amyloid fibrils in ATTRVal30Met amyloidosis patients does not change over time, even with a longer disease duration. This indicates that the composition of amyloid fibrils is not due to slow degradation over time.
Article
Clinical Neurology
Marcia Waddington-Cruz, Jonas Wixner, Leslie Amass, Jan Kiszko, Doug Chapman, Yukio Ando
Summary: In the THAOS survey, late-onset ATTRv Val30Met amyloidosis is common and presents with more severe neurological and cardiac manifestations. The heterogeneity of the disease may complicate diagnosis, but increased recognition of late-onset ATTRv Val30Met amyloidosis could lead to improved patient outcomes.
NEUROLOGY AND THERAPY
(2021)
Article
Clinical Neurology
Vanessa Carvalho, Carlota Cunha, Raquel Rocha, Joao Massano, Filipe Correia, Paulo Coelho, Sara Franca, Vitor Tedim Cruz, Catarina Cruto
Summary: In a study of ATTR-FAP patients presenting with transient events, most events were TIA-like or seizures, with some patients experiencing fever. The etiology remains unclear, but brain MRI and EEG abnormalities suggest regional brain dysfunction due to amyloid deposition as a contributing factor.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Medicine, General & Internal
Jose Manuel Matamala, Camila Pena, Javier Moreno-Roco, Jaime Alvarez, Pablo Villegas, Andres Stuardo, Barbara Puga, Ricardo Valjalo, Gonzalo Correa, Cecilia Jeraldo, Gonzalo Mendez, Jorge Larrondo, Marianne Gosch, Rodrigo Carrasco
Summary: Hereditary transthyretin amyloidosis is a complex genetic disorder with multisystemic manifestations. Early suspicion and management are essential for improving survival.
REVISTA MEDICA DE CHILE
(2022)
Review
Clinical Neurology
Loris Poli, Beatrice Labella, Stefano Cotti Piccinelli, Filomena Caria, Barbara Risi, Simona Damioli, Alessandro Padovani, Massimiliano Filosto
Summary: Amyloidoses are a group of diseases characterized by the accumulation of insoluble misfolded protein material called amyloid. Transthyretin amyloidosis (ATTR) is a subtype related to abnormalities in the transthyretin protein. It can be hereditary or occur spontaneously, and affects multiple vital organs. Timely diagnosis is crucial due to the availability of effective treatments.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Y. Zhang, Z. Liu, Y. Zhang, H. Wang, X. Liu, S. Zhang, X. Liu, D. Fan
Summary: This study aimed to evaluate the use of in vivo corneal confocal microscopy (CCM) to detect and monitor disease progression in TTR-FAP patients. It found that the area under the ROC curve for FAP with CNFL and IWL exceeded other parameters, demonstrating the sensitivity of IWL as a surrogate for preclinical SFN. The clustering of immature LCs at the inferior whorl area might reflect the inflammatory response of small-fiber nerves at the early stage of the disease.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Luca Leonardi, Clovis Adam, Guillemette Beaudonnet, Diane Beauvais, Cecile Cauquil, Adeline Not, Olivier Morassi, Anouar Benmalek, Olivier Trassard, Andoni Echaniz-Laguna, David Adams, Celine Labeyrie
Summary: This study aimed to assess the role of skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). The results showed that skin amyloid deposits are a marker of ATTRv-PN disease onset, and decreased intraepidermal nerve fiber density (IENFD) is a marker of disease progression.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Clemence Durelle, Emilien Delmont, Constance Michel, Amira Trabelsi, Marc-Adrien Hostin, Augustin Ogier, David Bendahan, Shahram Attarian
Summary: This study aimed to quantify fatty infiltration and magnetization transfer ratio in individual muscles of patients with symptomatic and asymptomatic TTR-FAP using magnetic resonance imaging. The results showed elevated fatty infiltration and decreased magnetization transfer ratio in the lower limbs of symptomatic TTR-FAP patients. In asymptomatic patients, elevated fatty infiltration in the gastrocnemius lateralis muscle was observed. Fatty infiltration was significantly correlated with disease duration and neuropathy impairment scores.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Letter
Biochemistry & Molecular Biology
Yuto Uchida, Koji Takada, Yasukuni Tsugu, Mitsuharu Ueda, Taro Yamashita, Yukio Ando, Susumu Kobayashi, Haruki Koike, Takayuki Watanabe, Takashi Matsumoto, Takanari Toyoda, Gohei Yamada, Noriyuki Matsukawa
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2015)
Article
Clinical Neurology
Shinya Maeshima, Haruki Koike, Seiya Noda, Tomoko Noda, Hirotaka Nakanishi, Masahiro Iijima, Mizuki Ito, Seigo Kimura, Gen Sobue
JOURNAL OF NEUROLOGY
(2015)
Article
Clinical Neurology
Haruki Koike, Kazuo Akiyama, Toyokazu Saito, Gen Sobue
JOURNAL OF NEUROLOGY
(2015)
Article
Clinical Neurology
Rina Hashimoto, Haruki Koike, Mie Takahashi, Ken Ohyama, Yuichi Kawagashira, Masahiro Iijima, Gen Sobue
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2015)
Article
Clinical Neurology
Haruki Koike, Mie Takahashi, Ken Ohyama, Rina Hashimoto, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Hiroshi Doi, Fumiaki Tanaka, Gen Sobue
Article
Clinical Neurology
Akinori Okada, Haruki Koike, Tomohiko Nakamura, Masakatu Motomura, Gen Sobue
NEUROMUSCULAR DISORDERS
(2015)
Article
Medicine, General & Internal
Tomoko Noda, Masahiro Iijima, Seiya Noda, Shinya Maeshima, Hirotaka Nakanishi, Seigo Kimura, Haruki Koike, Shinsuke Ishigaki, Yohei Iguchi, Masahisa Katsuno, Gen Sobue
Article
Clinical Neurology
Ken Ohyama, Haruki Koike, Rina Hashimoto, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen Sobue
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2016)
Article
Clinical Neurology
Sonoko Misawa, Yasunori Sato, Kanako Katayama, Kengo Nagashima, Reiko Aoyagi, Yukari Sekiguchi, Gen Sobue, Haruki Koike, Ichiro Yabe, Hidenao Sasaki, Osamu Watanabe, Hiroshi Takashima, Masatoyo Nishizawa, Izumi Kawachi, Susumu Kusunoki, Yoshiyuki Mitsui, Seiji Kikuchi, Ichiro Nakashima, Shu-ichi Ikeda, Nobuo Kohara, Takashi Kanda, Jun-ichi Kira, Hideki Hanaoka, Satoshi Kuwabara
Article
Clinical Neurology
Tomohiko Nakamura, Masashi Suzuki, Akinori Okada, Junichiro Suzuki, Satoru Hasegawa, Haruki Koike, Masaaki Hirayama, Masahisa Katsuno, Gen Sobue
MOVEMENT DISORDERS
(2016)
Article
Clinical Neurology
Haruki Koike, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Yohei Misumi, Yohei Misumi, Yukio Ando, Shu-ichi Ikeda, Masahisa Katsuno, Gen Sobue
Article
Clinical Neurology
Michihito Masuda, Joe Senda, Hirohisa Watanabe, Bagarinao Epifanio, Yasuhiro Tanaka, Kazunori Imai, Yuchi Riku, Yuanzhe Li, Ryoichi Nakamura, Mizuki Ito, Shinsuke Ishigaki, Naoki Atsuta, Haruki Koike, Masahisa Katsuno, Nobutaka Hattori, Shinji Naganawa, Gen Sobue
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2016)
Review
Cell Biology
Haruki Koike, Masahisa Katsuno
Summary: Myelin phagocytosis by macrophages is a key feature of demyelinating diseases, with the discovery of specific autoantibodies aiding in the identification of distinct disease entities, though the underlying mechanisms remain unclear. Macrophages appear to selectively target specific sites on myelinated fibers for demyelination, indicating the importance of localized components in initiating myelin phagocytosis.
Review
Biochemistry & Molecular Biology
Haruki Koike, Yohei Iguchi, Kentaro Sahashi, Masahisa Katsuno
Summary: Amyloidosis refers to a group of protein-misfolding diseases where normally soluble proteins form insoluble amyloid fibrils. The role of amyloid fibrils in tissue damage is debated, with some studies suggesting their importance in systemic amyloidosis. In neurodegenerative diseases, oligomers rather than amyloid fibrils are thought to be responsible for cell death, leading to the development of disease-modifying therapies targeting these protein aggregates.
Review
Biochemistry & Molecular Biology
Haruki Koike, Masahisa Katsuno
Summary: Amyloidosis is a group of diseases involving disorders like Alzheimer's and prion diseases. Studies suggest that in addition to the toxicity of amyloid fibrils, non-fibrillar states of amyloidogenic proteins and membrane obscuration near amyloid fibrils may play key roles in tissue damage. Therapeutic strategies focus on reducing protein production, preventing fibril formation, and eliminating existing amyloid fibrils. With the development of novel therapies like short interfering RNA and monoclonal antibodies, early diagnosis and appropriate treatment selection are increasingly crucial for amyloidosis patients.