Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient by Eric Black

“…Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. …”
Get full text

Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. …”
Get full text

Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association? by Evangelos P. Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petropoulos, Nikos Zavras, Nikos Economopoulos, Alexandros Charalabopoulos, Anastasios Macheras

“…A possible association between Friedreich's ataxia (FA) and neoplastic development has been recognized. …”
Get full text

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

“…Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. …”
Get full text

Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies by Sinali O. Seneviratne, Katherine A. Buzzard, Belinda Cruse, Mastura Monif

“…Having both cerebellar ataxia and stiff person syndrome is a rare occurrence in anti-GAD antibody syndrome. …”
Get full text

Anesthesia Management in Scoliosis Surgery of Patients with Friedreich’s Ataxia: A Report of Four Cases by Muhammed Köse, Ercan Bal, Şemsi Mustafa Aksoy, Ayşe Lafçı

Subjects: Get full text

Visual Impairment and Ataxia after Excision of Recurrent Cerebellar Space Occupation: A Case Report by Lixia JIN, Gang LIU, Junfa WU, Kewei YU, Xinwei TANG, Yi WU

Subjects: Get full text

Ataxia and Seizures despite Phenytoin: A Case Report Highlighting the Importance of TDM and Genetic Influences by Rachel Manoj, Arpita Meher, Jefry Winner G.

Get full text

Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia by Mary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, Riadh Gouider, Eppie M. Yiu, Eppie M. Yiu, Barbara Pietrucha, Asbjørg Stray-Pedersen, Susan L. Perlman, Steve Wu, Trudy Burgers, Rupam Borgohain, Rukmini Mridula Kandadai, Isabelle Meyts, Giorgia Bucciol, Anaita Udwadia-Hegde, Ravi Yadav, Donna Roberts, Aaron Dane, Maureen Roden, Dirk Thye, Biljana Horn, Howard M. Lederman, William P. Whitehouse

Subjects: “…ataxia telangiectasia…”
Get full text

Erratum to “A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7” by N. Sokolovsky, A. Cook, H. Hunt, P. Giunti, L. Cipolotti

Get full text

Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome by María Fernandez-Rueda, Alfredo García-Fernández, Joaquín Jesús De Vergas-Gutiérrez

Get full text

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome by Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, Randi J. Hagerman

“…We report the clinical presentation and laboratory findings of a 69-year-old man with fragile X-associated tremor ataxia syndrome (FXTAS), a progressive neurodegenerative disorder, who was noted to have monoclonal gammopathy of undetermined significance (MGUS), a plasma cell proliferative disorder and a precursor disease of multiple myeloma. …”
Get full text

Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy by Suvorit S. Bhowmick, Radhay Parikh, Pratishtha Shrivastav

Subjects: “…cerebellar ataxia…”
Get full text

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A by Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

“…Abstract Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. …”
Get full text

Late onset cerebellar ataxia syndrome after non-paraneoplastic Lambert-Eaton myasthenic syndrome: a case study by David P. Randall, Matthew C. Randall

Subjects: Get full text

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

“…A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. …”
Get full text

Probable Anti-Glutamate Decarboxylase 65 (Gad65) Antibody-Associated Cerebellar Ataxia. Clinical Case Report and Literature Review by J. Valinčiūtė, P. Petkevičiūtė, R. Balnytė, J. Čiauškaitė

Subjects: Get full text

Informal gold miners with mercury toxicity: Novel asymmetrical neurological presentations by J George, E Sadiq, I Moola, S Maharaj, A Mochan

Subjects: Get full text

A Comparative Study of Conventional Physiotherapy versus Robot-Assisted Gait Training Associated to Physiotherapy in Individuals with Ataxia after Stroke by Marcia Belas dos Santos, Clarissa Barros de Oliveira, Arly dos Santos, Cristhiane Garabello Pires, Viviana Dylewski, Ricardo Mario Arida

“…Nineteen stroke survivors with ataxia sequel after one year of injury were recruited. …”
Get full text

CARP VIII antibody-related autoimmune cerebellar ataxia in a child after Mycoplasma pneumoniae infection: a case report by Minglei Li, Zongming Han, Jinlei Li, Qianyun Wang, Zufang Lv

Subjects: “…cerebellar ataxia…”
Get full text