Review
Medicine, General & Internal
Xiaoyang Liu, Linlin Wang, Jiajun Chen, Chunyang Kang, Jia Li
Summary: Spinocerebellar ataxia (SCA) is a common neurogenetic disease characterized by ataxia of posture, gait, and limbs, as well as cerebellar movement disorders. Molecular genetic diagnosis is essential for clinical diagnosis and treatment. This case report identified a family with SCA28 due to a rare gene mutation, highlighting the importance of genetic testing in ataxia.
Article
Biochemistry & Molecular Biology
Jonasz Jeremiasz Weber, Stefanie Cari Anger, Priscila Pereira Sena, Rana Dilara Incebacak Eltemur, Chrisovalantou Huridou, Florian Fath, Caspar Gross, Nicolas Casadei, Olaf Riess, Huu Phuc Nguyen
Summary: This study demonstrates that calpains cleave TBP and cause mislocalization of its fragments, leading to the development of SCA17. SCA17 cell and rat models show excessive activation of calpains, resulting in fragmentation and depletion of neuronal proteins. Additionally, pharmacological or genetic inhibition of calpains improves cell viability.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Genetics & Heredity
Hao-Ling Cheng, Hai-Lin Dong, De-Shan Liu, Wang Ni, Yin Ma, Lu Yang, Yi-Chu Du, Dian-Fu Chen, Yi Dong, Zhi-Ying Wu
Summary: Through data analysis and functional studies, it was found that TGM6 may not be a specific causative gene for SCA35, and more attention should be paid to clinical consultation or diagnosis in this area.
Article
Clinical Neurology
Romina Romaniello, Andrea Citterio, Elena Panzeri, Filippo Arrigoni, Marta De Rinaldis, Antonio Trabacca, Maria Teresa Bassi
Summary: In this study, two novel cases of early onset SCA5 were reported, both involving mutations in SPTBN2 gene. One case showed severe cerebellar atrophy and reduction of pons volume at a very young age, while the other case exhibited mild cerebellar atrophy with a later onset. Additionally, a hyperintense signal of the dentate nuclei was observed in both cases for the first time.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Neurosciences
Sun-Uk Lee, Ji-Soo Kim, Dallah Yoo, Aryun Kim, Hyo-Jung Kim, Jeong-Yoon Choi, Ji-Yun Park, Seong-Hae Jeong, Jong-Min Kim, Kun-Woo Park
Summary: Differentiation between spinocerebellar ataxia type 17 (SCA17) and Huntington's disease (HD) is challenging, but ocular motor findings can help distinguish between the two. Central positional nystagmus (CPN) is more frequently observed in SCA17, while saccadic slowing is more common in HD. Ocular motor abnormalities can be used as a diagnostic and surrogate marker for clinical decline in SCA17.
Article
Biochemistry & Molecular Biology
Cheng-Tsung Hsiao, Thomas F. Tropea, Ssu-Ju Fu, Tanya M. Bardakjian, Pedro Gonzalez-Alegre, Bing-Wen Soong, Chih-Yung Tang, Chung-Jiuan Jeng
Summary: A KCND3 variant associated with iron accumulation-related cerebellar ataxia was identified, leading to increased potassium current amplitudes and changes in voltage-dependent gating properties. This rare gain-of-function variant may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation, in contrast to previously reported loss-of-function mutations in KCND3.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Jose Gazulla, Elena Bellosta-Diago, Silvia Izquierdo-Alvarez, Jose Berciano
Summary: This study identifies three heterozygous missense variants in the ITPR1 gene that are associated with SCA15 in Caucasian kindreds. These variants segregate with the disease and are predicted to be pathogenic.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, General & Internal
Xin Huang, Dong-Sheng Fan
Summary: SCAR4 is a hereditary disease characterized by ataxia, pyramidal signs, neuropathy, and macrosaccadic intrusions. A novel compound heterozygous mutation, c.3288delA (p.Asp1097ThrfsTer6), in the VPS13D gene was reported in a young female Chinese patient, enriching the gene mutation spectrum associated with SCAR4.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Genetics & Heredity
Runfeng Zhang, Peng Jia, Yanyi Yao, Feng Zhu
Summary: This study reported a case of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) in a Chinese family. Through genetic analysis, a novel variant in the CASK gene associated with the disease was identified. The patient exhibited symptoms such as microcephaly, pontocerebellar hypoplasia, and severe intellectual disabilities. This research facilitates the diagnosis of the disease in the family and expands the variant spectrum of the CASK gene in MICPCH patients.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Rino Inada, Makito Hirano, Nobuyuki Oka, Makoto Samukawa, Kazumasa Saigoh, Hidekazu Suzuki, Fukashi Udaka, Akihiro Hashiguchi, Hiroshi Takashima, Yukihiro Hamada, Yusaku Nakamura, Susumu Kusunoki
Summary: This study aimed to clarify the phenotypic and molecular diversities of SCA2 in Japan. Patients with expanded CAG repeats may exhibit a neuropathy-dominant phenotype not previously described. The novel 21-base duplication mutation in Ataxin-2 protein shares aggregation properties with polyglutamine-expanded mutants.
JOURNAL OF NEUROLOGY
(2021)
Correction
Neurosciences
Chih-Chun Lin, Shi-Rui Gan, Deepak Gupta, Armin Alaedini, Peter H. Green, Sheng-Han Kuo
Summary: The authors discovered an error in Table 2 of the published paper.
Article
Clinical Neurology
Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima, Junhui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Yu Hiramatsu, Satoshi Nozuma, Shinobu Fukumura, Hiroyuki Yahikozawa, Erika Abe, Itaru Toyoshima, Masashiro Sugawara, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima
Summary: The COA7 gene is associated with a range of disorders that can present with symptoms such as cerebellar ataxia, axonal polyneuropathy, leukoencephalopathy, dystonia, and parkinsonism. It may also be a causative gene for infantile-onset generalized dystonia.
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun
Summary: This case report describes a 30-year-old Chinese man with episodes of dystaxia, speech disorder, and cognitive impairment. Whole-exome sequencing identified a heterozygous c.1232G>C (p.G411A) variant of PRKCG. The findings highlight the importance of gene sequencing in patients with spinocerebellar ataxia and expand the genotype and phenotype of SCA14.
FRONTIERS IN GENETICS
(2023)
Article
Clinical Neurology
Federico Paolini Paoletti, Paolo Prontera, Pasquale Nigro, Simone Simoni, Giulia Cappelletti, Marta Filidei, Paolo Calabresi, Lucilla Parnetti, Nicola Tambasco
Summary: SCA17 is a rare genetic disease caused by abnormal expansion of CAG/CAA sequence in the TBP gene, with over 49 repeats as full penetrance expansion and between 41-49 repeats as reduced penetrance. Patients with small range expanded allele of SCA17 may present clinical and imaging features resembling atypical parkinsonisms.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Jennifer Faber, Tamara Schaprian, Koyak Berkan, Kathrin Reetz, Marcondes Cavalcante Franca, Thiago Junqueira Ribeiro Rezende, Jiang Hong, Weihua Liao, Bart Warrenburg, Judith Gaalen, Alexandra Durr, Fanny Mochel, Paola Giunti, Hector Garcia-Moreno, Ludger Schoels, Holger Hengel, Matthis Synofzik, Benjamin Bender, Gulin Oz, James Joers, Jereon J. Vries, Jun-Suk Kang, Dagmar Timmann-Braun, Heike Jacobi, Jon Infante, Richard Joules, Sandro Romanzetti, Jorn Diedrichsen, Matthias Schmid, Robin Wolz, Thomas Klockgether
Summary: The study aimed to quantify regional brain volumes and cervical spinal cord areas in spinocerebellar ataxia type 3 patients using MRI, revealing that tissue loss in the brain and spinal cord starts before ataxia onset in early-stage patients. Pontine volume is identified as a potential imaging biomarker candidate for intervention trials aiming to slow the progression of the disease.
MOVEMENT DISORDERS
(2021)
Letter
Microbiology
Jee-Soo Lee, Ji Soo Ahn, Byeong Su Yu, Sung Im Cho, Man Jin Kim, Jong Moon Choi, Soo Hyun Seo, Sung Sup Park, Moon-Woo Seong
JOURNAL OF CLINICAL MICROBIOLOGY
(2017)
Article
Ophthalmology
Jin Wook Jeoung, Dong Myung Kim, Sohee Oh, Jee-Soo Lee, Sung Sup Park, Ji Yeon Kim
JOURNAL OF GLAUCOMA
(2017)
Letter
Clinical Neurology
Moon-Woo Seong, Jongmoon Choi, Sung Sup Park, Ji Yeon Kim, Jeong-Min Hwang
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2017)
Letter
Clinical Neurology
Moon-Woo Seong, Jongmoon Choi, Sung Sup Park, Ji Yeon Kim, Jeong-Min Hwang
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2017)
Article
Clinical Neurology
Anna Cho, Moon-Woo Seong, Byung Chan Lim, Hwa Jeen Lee, Jung Hye Byeon, Seung Soo Kim, Soo Yeon Kim, Sun Ah Choi, Ai-Lynn Wong, Jeongho Lee, Jon Soo Kim, Hye Won Ryu, Jin Sook Lee, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Young Seung Hwang, Ki Ho Hong, Seungman Park, Sung Im Cho, Seung Jun Lee, Hyunwoong Park, Soo Hyun Seo, Sung Sup Park, Jong Hee Chae
Article
Clinical Neurology
Young Eun Kim, Beomseok Jeon, Matthew J. Farrer, Erika Scott, Ilaria Guella, Sung Sup Park, Jong Min Kim, Hye Young Park, Aryun Kim, Young Don Son, Zang Hee Cho
PARKINSONISM & RELATED DISORDERS
(2017)
Article
Clinical Neurology
Ji-Young Kim, Woong-Woo Lee, Chae Won Shin, Han-Joon Kim, Sung-Sup Park, Sun Ju Chung, Jin Whan Cho, Ho-Sung Ryu, Tae Ok Son, Beomseok Jeon
PARKINSONISM & RELATED DISORDERS
(2017)
Article
Medical Laboratory Technology
Sun Ah Choi, Soo Yeon Kim, Jihoo Yoon, Joongmoon Choi, Sung Sup Park, Moon-Woo Seong, Hunmin Kim, Hee Hwang, Ji Eun Choi, Jong Hee Chae, Ki Joong Kim, Seunghyo Kim, Yun-Jin Lee, Sang Ook Nam, Byung Chan Lim
ANNALS OF LABORATORY MEDICINE
(2017)
Article
Cardiac & Cardiovascular Systems
Dae-Won Sohn, Hyung-Kwan Kim, Yong-Jin Kim, Seil Oh, Moon-Woo Seong, Sung-Sup Park
KOREAN CIRCULATION JOURNAL
(2017)
Article
Cardiac & Cardiovascular Systems
Ji-won Hwang, Mi-Ae Jang, Shin Yi Jang, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Chang-Seok Ki, Duk-Kyung Kim
KOREAN CIRCULATION JOURNAL
(2017)
Article
Medical Laboratory Technology
Yeo-Min Yun, Misuk Ji, Dae-Hyun Ko, Sail Chun, Gye Cheol Kwon, Kyunghoon Lee, Sang Hoon Song, Moon Woo Seong, Sung Sup Park, Junghan Song
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2017)
Article
Urology & Nephrology
Eujin Park, Yo Han Ahn, Hee Gyung Kang, Kee Hwan Yoo, Nam Hee Won, Kyoung Bun Lee, Kyung Chul Moon, Moon-Woo Seong, Tae Rin Gwon, Sung Sup Park, Hae Il Cheong
AMERICAN JOURNAL OF KIDNEY DISEASES
(2017)