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NEUROLOGY 2006;66:1672-1678
© 2006 American Academy of Neurology

Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu)

H. Arata, MD, H. Takashima, MD, PhD, R. Hirano, MD, PhD, H. Tomimitsu, MD, K. Machigashira, MD, K. Izumi, MD, M. Kikuno, MD, A. R. Ng, MD, PhD, F. Umehara, MD, PhD, T. Arisato, MD, R. Ohkubo, MD, PhD, Y. Nakabeppu, MD, M. Nakajo, MD, M. Osame, MD and K. Arimura, MD

From the Departments of Neurology and Geriatrics (H.A., H.T., R.H., H.T., K.I., A.R.N., F.U., T.A., R.O., M.O., K.A.) and Radiology (Y.N., M.N.), Kagoshima University School of Medicine, and Department of Neurology (K.M., M.K.), Kikuno Hospital, Japan.

Address correspondence and reprint requests to Dr. H. Takashima, Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima, Japan 890-8520; e-mail: thiroshi{at}m3.kufm.kagoshima-u.ac.jp

Objective: To determine the clinical and radiologic features of Gerstmann–Sträussler–Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102).

Methods: The authors report 11 patients (nine families) with clinically and radiologically diagnosed GSS102.

Results: All patients showed mild gait disturbance, dysesthesia and hyporeflexia of the lower legs, and truncal ataxia, and 9 of 11 patients showed proximal leg muscle weakness during the early stage of the disease. Dementia was not a main symptom during the early stage. Brain MRI and EEG abnormalities were not prominent initially. SPECT (N-isopropyl-p-[123I]iodoamphetamine) analyzed by the three-dimensional stereotactic surface projection (SSP) method detected abnormalities in five patients early during the course of the illness. SPECT findings showed diffusely decreased cerebral blood flow, demonstrated by a mosaic pattern, with the lowest perfusion noted in the occipital lobes. In contrast, blood flow to the cerebellum was preserved. These studies suggested sites of pathology in GSS102, with the main lesions probably located in the cerebrum and the spinal cord (posterior horn and spinocerebellar tract) instead of the cerebellum.

Conclusions: Key features for early diagnosis of Gerstmann–Sträussler–Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102) are truncal ataxia, dysesthesia and hyporeflexia of the lower legs, and mild dysarthria. Normal cerebellar MRI and abnormal cerebral SPECT findings are characters of early GSS102.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the June 13 issue to find the title link for this article.

Supported in part by grants from the research grant (17A-1) for Nervous and Mental Disorders and the Research Committee for Ataxic Disease from the Ministry of Health, Welfare and Labour Japan to H.T. and K.A., the Kato Foundation, Kanae Foundation, and the Nakabayashi Trust for ALS Research to H.T., and Scientific Research Grant from the Ministry of Education, Culture, Sports, Science, and Technology of Japan to H.T., I.H., R.O., and K.A.

Disclosure: The authors report no conflicts of interest.

Received June 16, 2005. Accepted in final form February 22, 2006.




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