Neuro genetics

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

BMJ Case Reports CP May 2019, 12 (5) e228782; DOI: 10.1136/bcr-2018-228782
Rapidly progressive global cerebral atrophy in the setting of anti-LGI1 encephalitis
Anudeep Yelam, Elanagan Nagarajan, Pradeep C Bollu

BMJ Case Reports CP May 2019, 12 (5) e228428; DOI: 10.1136/bcr-2018-228428
Intellectual disability in boys: mark the face!
Surya Saini, Bhanudeep Singanamala, Arushi Gahlot Saini

BMJ Case Reports CP May 2019, 12 (5) e229271; DOI: 10.1136/bcr-2019-229271
Slowly progressive distal muscle weakness: neuropathy or myopathy?
Yafit Nahari, Ahmed Abbas, Elizabeth Curtis, Saiju Jacob

BMJ Case Reports CP Apr 2019, 12 (4) e226903; DOI: 10.1136/bcr-2018-226903
Late-onset presentation of POLG1-associated mitochondrial disease
Bruna Meira, Rafael Roque, Miguel Pinto, André Caetano

BMJ Case Reports CP Mar 2019, 12 (3) e228482; DOI: 10.1136/bcr-2018-228482
Harding’s disease: an important MS mimic
Stuti Joshi, Allan G Kermode

BMJ Case Reports CP Mar 2019, 12 (3) e228337; DOI: 10.1136/bcr-2018-228337
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome
Daphna Prat, Iris Ben Bassat Mizrachi, Vicktoria Vishnevskia-Dai

BMJ Case Reports CP Feb 2019, 12 (2) bcr-2017-224079; DOI: 10.1136/bcr-2017-224079
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

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Neuro genetics

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