Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

Serial magnetic resonance images of a Creutzfeldt-Jakob disease patient with V180I mutation obtained over 10 years

Hiroshi Shimizu, M.D.1)2), Yusei Shiga, M.D.3), Arifumi Matsumoto, M.D.1) and Kinya Hisanaga, M.D.1)

1)Department of Neurology, Miyagi National Hospital
2)Department of Neurology, Yamagata National Hospital
3)Department of Neurology, Aoba Neurosurgical Clinic

We acquired serial magnetic resonance images (MRIs) of a Creutzfeldt-Jakob disease (CJD) patient carrying the V180I mutation; his symptoms slowly progressed over a period of 10 years. A 57-year-old man presented with cognitive impairment and was admitted to our hospital. Diffusion-weighted images (DWIs) and fluid-attenuated inversion recovery (FLAIR) images showed high-intensity areas (HIAs) in the cerebral cortex and basal ganglia, but not in the thalamus, brainstem, and cerebellum, until 1.5 years after symptom onset. The HIAs in the cerebral cortex and basal ganglia disappeared 4 years after symptom onset, while the atrophy in these regions progressed rapidly during this period. However, the thalamus, brainstem, and cerebellum appeared to be preserved over 10 years after symptom onset. The mechanism for the regional vulnerability in brains of CJD patients remains unclear. Further studies in additional cases are required to clarify whether differences in the mutation of the prion protein gene might be associated with the vulnerability.
Full Text of this Article in Japanese PDF (2769K)

(CLINICA NEUROL, 53: 235|238, 2013)
key words: Creutzfeldt-Jakob disease, prion protein, V180I mutation, MR images, brain atrophy

(Received: 12-Dec-11)