Neuro genetics

Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease
Debaleena Mukherjee, Souvik Dubey, Goutam Ganguly, Alak Pandit

BMJ Case Reports CP Jan 2021, 14 (1) e239630; DOI: 10.1136/bcr-2020-239630
Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form
Weiyi Mu, Teresa Heller, Kristin W Barañano

BMJ Case Reports CP Jan 2021, 14 (1) e236732; DOI: 10.1136/bcr-2020-236732
Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis
Jordan Burgess, Diba Behzad-Noori, Cheryl Longman, Kathryn Brennan

BMJ Case Reports CP Dec 2020, 13 (12) e237978; DOI: 10.1136/bcr-2020-237978
Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
Neha Jangid, Priyanka Surana, Gajja Salmonos, Vivek Jain

BMJ Case Reports CP Dec 2020, 13 (12) e237542; DOI: 10.1136/bcr-2020-237542
Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene
Naveen Parkash Gupta, Vinita Verma, Saurabh Chopra, Vivek Choudhury

BMJ Case Reports CP Dec 2020, 13 (12) e236152; DOI: 10.1136/bcr-2020-236152
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2
Andrea Zonta, Alessandro Brussino, Patrizia Dentelli, Alfredo Brusco

BMJ Case Reports CP Dec 2020, 13 (12) e238108; DOI: 10.1136/bcr-2020-238108
Hyperglycaemic chorea-ballism or unmasking of Huntington’s chorea in a patient with diabetes
Anudeep Yelam, Elanagan Nagarajan, Lakshmi Prasanna Digala, Pradeep C Bollu

BMJ Case Reports CP Mar 2020, 13 (3) e232726; DOI: 10.1136/bcr-2019-232726
Adult-onset methylenetetrahydrofolate reductase deficiency
Daniela Vieira, Cristina Florindo, Isabel Tavares de Almeida, Maria Carmo Macário

BMJ Case Reports CP Mar 2020, 13 (3) e232241; DOI: 10.1136/bcr-2019-232241
Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)
Gustavo Ferrer, Alwiya Omar Saleh, Henry D Tazelaar, Andrea V Arrossi

BMJ Case Reports CP Jan 2020, 13 (1) e227379; DOI: 10.1136/bcr-2018-227379
Infantile refractory seizures due to de novo KCNT 1 mutation
Mahdi Alsaleem, Vivien Carrion, Arie Weinstock, Praveen Chandrasekharan

BMJ Case Reports CP Oct 2019, 12 (10) e231178; DOI: 10.1136/bcr-2019-231178

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Neuro genetics

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