PEX10-related autosomal recessive cerebellar ataxia with hearing loss

Özçora, Gül Demet Kaya; Miyatake, Satoko; Matsumoto, Naomichi; Canpolat, Mehmet; Erdoğan, Murat; Bayramov, Ruslan; Kumandaş, Sefer

doi:10.1007/s13760-018-0987-8

Cited by 1 publication

(3 citation statements)

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“…6,7,9,10 Using immunohistochemistry against catalase, these previous studies reported either a peroxisomal mosaic pattern, 6,7 a temperature sensitive phenotype, 10 or a qualitative abnormal catalase staining. 8,11 Yamashita et al report a peroxisomal mosaic pattern in their catalase staining, a qualitative decreased number as well as altered size of peroxisomes in a PMP70 staining. A quantification was not performed.…”

Section: Discussionmentioning

confidence: 99%

“…Only 14 patients from 9 families, who all developed cerebellar ataxia in the course, have been published as of November 1, 2021 (►Table 1). [6][7][8][9][10][11][12][13] In 11/14 patients, ataxia was the first symptom, in three patients, it was hearing impairment. Patient's symptoms started in the first decade, but beyond infancy.…”

Section: Discussionmentioning

confidence: 99%

“…Our search yielded 14 similar patients with PEX10-related cerebellar ataxia (►Table 1). [6][7][8][9][10][11][12][13] Reported PEX10 variants without clinical information were not included. 5,14,15…”

Section: Literature Searchmentioning

confidence: 99%

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How to Detect Isolated PEX10-Related Cerebellar Ataxia?

et al. 2022

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A 4-year-old boy presented with subacute onset of cerebellar ataxia. Neuroimaging revealed cerebellar atrophy. Metabolic screening tests aiming to detect potentially treatable ataxias showed an increased value (fourfold upper limit of normal) for phytanic acid and elevated very-long-chain fatty acid (VLCFA) ratios (C24:0/C22:0 and C26:0/C22:0), while absolute concentrations of VLCFA were normal. Genetic analysis identified biallelic variants in PEX10. Immunohistochemistry confirmed pathogenicity in the patients' cultured fibroblasts demonstrating peroxisomal mosaicism with a general catalase import deficiency as well as conspicuous peroxisome morphology as an expression of impaired peroxisomal function. We describe for the first time an elongated peroxisome morphology in a patient with PEX10-related cerebellar ataxia.A literature search yielded 14 similar patients from nine families with PEX10-related cerebellar ataxia, most of them presenting their first symptoms between 3 and 8 years of age. In 11/14 patients, the first and main symptom was cerebellar ataxia; in three patients, it was sensorineural hearing impairment. Finally, all 14 patients developed ataxia. Polyneuropathy (9/14) and cognitive impairment (9/14) were common associated findings. In 12/13 patients brain MRI showed cerebellar atrophy. Phytanic acid was elevated in 8/12 patients, while absolute concentrations of VLCFA levels were in normal limits in several patients. VLCFA ratios (C24:0/C22:0 and/or C26:0/C22:0), though, were elevated in 11/11 cases. We suggest including measurement of phytanic acid and VLCFA ratios in metabolic screening tests in unexplained autosomal recessive ataxias with cerebellar atrophy, especially when there is an early onset and symptoms are mild.

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