Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy
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LETTER TO THE EDITOR
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy Carlotta Spagnoli 1 Carlo Fusco 1,3
&
Daniele Frattini 1 & Fabrizio Gozzi 2 & Susanna Rizzi 1 & Grazia Gabriella Salerno 1 & Luca Cimino 2 &
Accepted: 8 November 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Dear Editor, Pathogenic variants in the non-erythrocytic beta-spectrin 2 subunit (SPTBN2) gene (MIM *604985) cause autosomal dominant spinocerebellar ataxia type 5 (SCA5, MIM #600224) and autosomal recessive spinocerebellar ataxia type 14 (SCAR14, MIM #615386). Missense variants, together with in-frame and large deletions, have been detected in previous cases of SCA5 [1–3]. Although most frequently the disease starts in adulthood and shows a pure cerebellar phenotype [1], more complex infantile-onset cases reminiscent of SCAR14 have emerged [3]. This is why we read with great interest the report by Rea and coauthors [4], who studied a new infantile-onset SCA5 patient and reviewed clinical, genetic, and neuroimaging data of previously described patients. We would like to report on one additional patient we recently diagnosed in our unit. He was born at term with polyhydramnios but with normal birth weight, Apgar scores, and head circumference, from healthy, unrelated, Caucasian parents with no family history of ataxia. He had motor delay (rolling at 8 months, independent sitting at 13 months) and hypotonia. Bilateral cataracts were diagnosed at 18 months, and he underwent surgery at a different hospital, while bilateral optic subatrophy developed aged 11 years and has now progressed to bilateral atrophy (Fig. 1). A sensory mixed polyneuropathy, mainly axonal, was first diagnosed in childhood.
* Carlotta Spagnoli [email protected] 1
Department of Pediatrics, Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
2
Ocular Immunology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
3
Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Aged 15 years, his neurological examination is dominated by proximal weakness (lower limbs more than upper limbs), a cerebellar syndrome, and brisk deep tendon reflexes. His first brain MRI at 18 months of age documented left cerebellar hemisphere atrophy, reduced white matter, and reduced corpus callosum (especially at the posterior third and splenium). Serial brain MRI scans documented a stable degree of cerebellar atrophy until the latest examination at 15 years of age. He had extended diagnostic investigations with inconclusive results, including skin biopsy, plasma amino acid and sialotransferrin electrophoresis, urinary organic acids and oligosaccharides, copper and caeruloplasmin, PPT and TPP-1, vitamin E, alpha-fetoprotein, very long–chain fatty acids, arylsulfatase A, cerebroside beta-galactosidase, and phytanic acid. Array CGH and single-gene testing for NARP, SIL1, PLA2G6, SPG3A, 4 and 7, Twinkle2, POLG1, ARSACS, GJ
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