{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:48:09Z","timestamp":1782881289084,"version":"3.54.5"},"reference-count":58,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Adult-onset recessive cerebellar ataxias remain frequently unresolved after next-generation sequencing, partly because phenotype-driven filtering can deprioritize biallelic variants in genes historically associated with severe pediatric multisystem disease. This review examines how attenuated, hypomorphic, or residual-function genotypes may present as late-onset, cerebellar-predominant disease and aims to support clinical interpretation of apparently discordant recessive findings. Methods: We performed a narrative, pathway-based synthesis of autosomal recessive adult- or late-onset ataxia involving genes classically linked to lysosomal\/neuronal ceroid lipofuscinosis and peroxisomal disorders. Reports were assessed for age at onset, cerebellar and extracerebellar chronology, variant class, zygosity, segregation\/in-trans confirmation, biochemical or functional evidence, and implications for clinician\u2013laboratory interpretation. Results: Published reports indicate that selected NCL-related and peroxisomal genes may be clinically relevant in adult-onset cerebellar ataxia, especially when accompanied by retinal disease, hearing loss, neuropathy, cognitive or psychiatric features, epilepsy\/myoclonus, movement-disorder signs, or subtle biochemical abnormalities. Apparent phenotype\u2013gene discordance may be compatible with residual function, allelic-series effects, and cerebellar selective vulnerability, although evidence is often limited to case reports or small series with variable segregation, biochemical, and functional support. We propose a workflow based on structured phenotype transfer, in-trans confirmation, targeted re-phenotyping, ACMG\/AMP-informed evidence weighting, and avoidance of label-based exclusion from \u201cataxia gene\u201d lists. Conclusions: Adult-onset recessive ataxia should not be interpreted only through canonical pediatric disease labels. A pathway-aware, phenotype-complete approach may reduce avoidable VUS retention and improve recognition of attenuated genetic presentations.<\/jats:p>","DOI":"10.3390\/genes17070758","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T03:06:34Z","timestamp":1782875194000},"page":"758","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5651-4970","authenticated-orcid":false,"given":"Lorenzo","family":"Cipriano","sequence":"first","affiliation":[{"name":"Medical and Molecular Genetics, AORN Cardarelli, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4543-3953","authenticated-orcid":false,"given":"Roberta","family":"Petillo","sequence":"additional","affiliation":[{"name":"Medical and Molecular Genetics, AORN Cardarelli, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4815-9550","authenticated-orcid":false,"given":"Manuela","family":"Priolo","sequence":"additional","affiliation":[{"name":"Medical and Molecular Genetics, AORN Cardarelli, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"D\u2019Ambrosio","sequence":"additional","affiliation":[{"name":"Medical and Molecular Genetics, AORN Cardarelli, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","article-title":"Biallelic Expansion of an Intronic Repeat in RFC1 Is a Common Cause of Late-Onset Ataxia","volume":"51","author":"Cortese","year":"2019","journal-title":"Nat. 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