Neuro genetics

Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene
Anudeep Yelam, Elanagan Nagarajan, Miguel Chuquilin, Raghav Govindarajan

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-227755; DOI: 10.1136/bcr-2018-227755
Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature
Subhanudh Thavaraputta, Suzanne Graham, Ana M Rivas Mejia, Joaquin Lado-Abeal

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226702; DOI: 10.1136/bcr-2018-226702
Difficult case of a rare form of familial Alzheimer’s disease with PSEN1 P117L mutation
Ana Luísa Rocha, Andreia Costa, Maria Carolina Garrett, Joana Meireles

BMJ Case Reports CP Nov 2018, 11 (1) e226664; DOI: 10.1136/bcr-2018-226664
Anti-HMGCR antibody-associated necrotising myopathy and its association with statin use
Ylenia Abdilla, Charmaine Chircop, Norbert Vella

Case Reports Nov 2018, 2018 bcr-2018-226302; DOI: 10.1136/bcr-2018-226302
Hereditary sensory and autonomic neuropathy in a male child: ‘The other side of not feeling pain’
Nripen Gaur, Rachna Meel, Shahnaz Anjum, Pallavi Singh

Case Reports Sep 2018, 2018 bcr-2018-226873; DOI: 10.1136/bcr-2018-226873
Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto’s encephalopathy
Jessica M Stevens, Matthew R Levine, Anne E Constantino, Gholam K Motamedi

Case Reports Jul 2018, 2018 bcr-2018-225155; DOI: 10.1136/bcr-2018-225155
Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder
Pulkit Rangarh, Neera Kohli

Case Reports May 2018, 2018 bcr-2017-223858; DOI: 10.1136/bcr-2017-223858
Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia
Arushi Gahlot Saini, Savita Attri, N Sankhyan, Pratibha Singhi

Case Reports Apr 2018, 2018 bcr-2017-220193; DOI: 10.1136/bcr-2017-220193
More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy
Kuntal Sen, Rajkumar Agarwal

Case Reports Apr 2018, 2018 bcr-2017-223614; DOI: 10.1136/bcr-2017-223614
Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia
Jacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara Castellotti

Case Reports Feb 2018, 2018 bcr-2017-223390; DOI: 10.1136/bcr-2017-223390

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Neuro genetics

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