[
  {
    "id": "V7T85PL7",
    "type": "article-journal",
    "abstract": "Sir,We read with great interest the articles previously published in Brain by Glickstein (1994) and Boyd (2010) describing the clinical evidence and review of cerebellar agenesis. Here we report a new case of a living patient whom we believe to be another patient with cerebellar agenesis. Cerebellar agenesis is an extremely rare condition implying complete absence of the cerebellum. The pathogenesis and molecular basis of this disease remain unknown. There are very few reported cases of complete cerebellar agenesis, making it challenging and controversial to understand the degree of cerebellum development necessary to avoid deficits in motor and non-motor functions. Further, a detailed description of neurological findings in a living adult with cerebellar agenesis is almost non-existent; most cases are reported based on autopsy reports. The patient presents with mild mental impairment and medium motor deficits. CT and MRI scans revealed no remnants of any cerebellar tissues, verifying complete absence of the cerebellum. A comprehensive literature review reveals novel implications for differential diagnosis. We conclude that primary cerebellar agenesis is actually the same diagnosis as Chiari malformation IV.",
    "container-title": "Brain",
    "DOI": "10.1093/brain/awu239",
    "ISSN": "0006-8950",
    "issue": "6",
    "journalAbbreviation": "Brain",
    "page": "e353",
    "source": "Silverchair",
    "title": "A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient",
    "title-short": "A new case of complete primary cerebellar agenesis",
    "URL": "https://doi.org/10.1093/brain/awu239",
    "volume": "138",
    "author": [
      {
        "family": "Yu",
        "given": "Feng"
      },
      {
        "family": "Jiang",
        "given": "Qing-jun"
      },
      {
        "family": "Sun",
        "given": "Xi-yan"
      },
      {
        "family": "Zhang",
        "given": "Rong-wei"
      }
    ],
    "accessed": {
      "date-parts": [
        [
          "2024",
          11,
          22
        ]
      ]
    },
    "issued": {
      "date-parts": [
        [
          "2015",
          6,
          1
        ]
      ]
    }
  }
]