3 research outputs found
Case Report Parkinsonism and Sjögren's Syndrome: A Fortuitous Association or a Shared Immunopathogenesis?
Parkinsonism and Sjögrenâs Syndrome: A Fortuitous Association or a Shared Immunopathogenesis?
Background. The Sjögren Syndrome (SS) can include various manifestations of central nervous system impairment. Extrapyramidal signs are known to be very rare and unusually discovered on early onset in this pathology. Observation. A 46-year-old woman with a history of progressive Parkinsonism for 6 years and a normal brain magnetic resonance imaging was partially improved with levodopa therapy. The later discovery of a sicca syndrome led to performing of further investigations, which revealed the presence of anti-SSA antibodies and a sialoadenitis of grade 4 according to Chisholmâs classification on labial salivary gland biopsy. The diagnosis of primary SS was established and the adjunction of corticotherapy has remarkably improved Parkinsonâs signs without use of other immunosuppressive agents. Conclusion. Based on these findings, we discuss the hypothesis of either a causal link between SS and Parkinsonism or a fortuitous association of two distinct pathologies with or without a shared immunopathogenesis
A Tunisian patient with CLCN2ârelated leukoencephalopathy
Abstract CLCN2ârelated leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLCâ2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCNâ2ârelated leukoencephalopathy. A 54âyearâold female with a family history of leukemia, male infertility, motor disability, and headaches who initially presented with a tensionâtype headache and normal physical examination. At the followâup, she developed mild gait ataxia and psychoâcognitive disturbances. A previously reported homozygous NM_004366.6(CLCN2):c.1709Gâ>âA (p.Trp570Ter) stop gained mutation was identified. This report expands the knowledge related to CC2L and highlights the clinical features in affected individuals of African descent