title: Heterogeneous imaging characteristics of JC virus granule cell neuronopathy (GCN): a case series and review of the literature.
abstract: Granule cell neuronopathy (GCN) is a rare JC virus (JCV)-related disease in immunocompromised patients, characterized by lytic infection of the cerebellar granule cell layer. To enable early diagnosis and intervention, we identify features of GCN and describe possible aspects of disease heterogeneity. We report on two new cases of GCN in HIV-infected patients of whom we retrospectively assessed clinical and radiologic data. In addition, we carried out a literature search and review of clinical, radiologic and histopathologic findings of all published GCN cases. Including the two new cases reported here, a total of 18 GCN cases were included in this study. HIV infection, present in 12 of the cases, was the most common underlying condition, followed by monoclonal antibody treatment which was present in three cases. Cerebellar atrophy was detected in all except two cases. In 12 patients a heterogeneous distribution pattern of white matter changes in the cerebellum and brainstem was observed. Imaging findings in GCN are remarkably heterogeneous; exhibiting cerebellar atrophy, as well as white matter pathology, particularly in the adjacent infratentorial white matter. This suggests an overlap of GCN with other JCV-related diseases, such as progressive multifocal leukoencephalopathy.
authors.affiliation: Department of Radiology and Nuclear Medicine, MS Center Amsterdam, VU University Medical Center, De Boelelaan 117, 1081 HV, Amsterdam, The Netherlands.
authors.forename: Martijn T
authors.initials: MT
authors.lastname: Wijburg
authors.forename: Bob W
authors.initials: BW
authors.lastname: van Oosten
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Murk
authors.forename: Ouafae
authors.initials: O
authors.lastname: Karimi
authors.forename: Joep
authors.initials: J
authors.lastname: Killestein
authors.forename: Mike P
authors.initials: MP
authors.lastname: Wattjes
mesh_terms: D002526:Cerebellar Diseases / Q000453:epidemiology / Q000473:pathology*; D002531:Cerebellum / Q000166:cytology*; D015897:Comorbidity; D015658:HIV Infections / Q000453:epidemiology; D006801:Humans; D007577:JC Virus / Q000472:pathogenicity*; D007968:Leukoencephalopathy, Progressive Multifocal / Q000453:epidemiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D066127:White Matter / Q000473:pathology*