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Fig. 2 | Acta Neuropathologica Communications

Fig. 2

From: Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Fig. 2

Expression of CHP1 and NHE1 in autopsied tissue. a Pedigree of the family. b Electrophoretograms showing sequencing of the c.271C > T CHP1 mutation. Patients 1 and 2 harbor a homozygous mutation and III-5 harbors a heterozygous mutation. c-i CHP1 immunohistochemistry. Images of the Purkinje cell layer (c-f) and frontal cortex (g-i). Positive reactivity is evident in the membrane and cytoplasm of the Purkinje cell and neuropil in the control (c), and empty basket in the disease control of spinocerebellar ataxia type 6 (d), but absent in the patients 1 and 2 (e, f). CHP1 immunoreactivity in the neuronal cytoplasm and neuropil is evident in the control (g), but absent in the patients 1 and 2 (h, i). j Moderate loss of calbindin-D28k (CaBP)-immunoreactive Purkinje cells and their dendrites in the cerebellum of patient 2 (upper left panel). Magnified image of a Purkinje cell with retained expression of CaBP (upper right panel). Western blotting of autopsied brain samples taken from the cerebellum and frontal cortex using antibodies for CHP1 and NHE1, and also CaBP, neurofilament-H (NFH) and GAPDH as loading controls (lower panel). Note the moderate reduction of CaBP expression in the cerebellum of patient 2, being consistent with the moderate loss of Purkinje cells observed with CaBP-IHC. k Relative levels of expression of CHP1 and NHE1 proteins. The levels were determined by normalization against CaBP, NFH and GAPDH. The bar shows the mean value under each condition. The protein levels of both CHP1 and NHE1 are reduced in the patients relative to the controls. Ctrl, control; SCA6, a woman aged 76 years with a disease duration of 19 years; Pt, patient; CaBP, calbindin-D28k; NFH, neurofilament-H. Bars = 350 μm in j (left panel); 80 μm in j (right panel); 30 μm in g-i; 20 μm in c-f

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