Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington’s Disease
Tóm tắt
We described a 63-year-old Japanese female with genetically confirmed Huntington’s disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington’s disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Furthermore, the Purkinje cells were found to have granular cytoplasmic inclusions. Somatic sprouting is a form of degenerated Purkinje cell exhibited in several specific conditions. Although this finding usually appeared in developmental brains, several neurodegenerative disorders, including Menkes kinky hair disease, familial spinocerebellar ataxia, acute encephalopathy linked to familial hemiplegic migraine, and several other conditions, have been reported showing sprouting from the soma of Purkinje cell. We propose that Huntington’s disease is another degenerative condition associated with these distinct neuropathological findings of Purkinje cell. Abnormally accumulated huntingtin protein in the cytoplasm could be related to the development of these structures.
Tài liệu tham khảo
Hedreen JC, Roos RAC. Huntington’s disease. In: Dickson DW, Weller RO, editors. Neurodegeneration: the molecular pathology of dementia and movement disorders. 2nd ed. Oxford: Wiley-Blackwell; 2011. p. 258–72.
Rodda RA. Cerebellar atrophy in Huntington’s disease. J Neurol Sci. 1981;50:147–57.
Jeste DV, Barban L, Parisi J. Reduced Purkinje cell density in Huntington’s disease. Exp Neurol. 1984;85:78–86.
Fennema-Notestine C, Archibald SL, Jacobson MW, Corey-Bloom J, Paulsen JS, Peavy GM, et al. In vivo evidence of cerebellar atrophy and cerebral white matter loss in Huntington disease. Neurology. 2004;63:989–95.
Rüb U, Hoche F, Brunt ER, Heinsen H, Seidel K, Del Turco D, et al. Degeneration of the cerebellum in Huntington’s disease (HD): possible relevance for the clinical picture and potential gateway to pathological mechanisms of the disease process. Brain Pathol. 2013;23:165–77.
Dougherty SE, Reeves JL, Lesort M, Detloff PJ, Cowell RM. Purkinje cell dysfunction and loss in a knock-in mouse model of Huntington disease. Exp Neurol. 2013;240:96–102.
Altman J, Bayer SA. Postnatal development of Purkinje cells. In: Development of the cerebellar system: in relation to its evolution, structure, and functions. Boca Raton: CRC; 1997. p. 378–411.
Cajal SR. Continuation of the degenerative and metamorphic processes consequent on cerebellar traumatisms. In: Degeneration and regeneration of the nervous system, vol. 2. New York: Hefner; 1959. p. 617–30.
Hirano A, Llena JF, Frence JH, Ghatak NR. Fine structure of the cerebellar cortex in Menkes kinky-hair disease. Acta Neuropathol. 1977;34:52–6.
Yang Q, Hashizume Y, Yoshida M, Wang Y, Goto Y, Mitsuma N, et al. Morphological Purkinje cell changes in spinocerebellar ataxia type 6. Acta Neuropathol. 2000;100:371–6.
Owada K, Ishikawa K, Toru S, Ishida G, Gomyoda M, Tao O, et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology. 2005;65:629–32.
Ito H, Kawakami H, Wate R, Matsumoto S, Imai T, Hirano A, et al. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. Neurology. 2006;67:1479–81.
Takahashi T, Arai N, Shimamura M, Suzuki Y, Yamashita S, Iwamoto H, et al. Autopsy case of acute encephalopathy linked to familial hemiplegic migraine with cerebellar atrophy and mental retardation. Neuropathology. 2005;25:228–34.
Yoshida K, Asakawa M, Suzuki-Kouyama E, Tabata K, Shintaku M, Ikeda S, et al. Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31. Neuropathology. 2014;34:261–7.