Advertisement

Degenerative inferior olivary nucleus and medullary tegmentum produced the characteristic magnetic resonance imaging signs in Alexander disease: A case report

      Alexander disease (AxD) is a rare neurodegenerative disease that is pathologically characterized by the presence of Rosenthal fibers in astrocytes. Ninety-eight percentage of AxD patients have detectable pathogenic variants in glial fibrillary acidic protein (GFAP) gene. Clinically, AxD is categorized into subtypes based on the age of onset, and the adult-onset AxD (AOAD) constitutes approximately 33% of affected individuals [
      • Srivastava S.
      • Naidu S.
      Alexander Disease. GeneReviews®[Internet].
      ]. As a radiological finding in AxD, “tadpole appearance,” which is characterized by the presence of relatively preserved pons and severely atrophied medulla oblongata on magnetic resonance imaging (MRI) [
      • Namekawa M.
      • Takiyama Y.
      • Aoki Y.
      • Takayashiki N.
      • Sakoe K.
      • Shimazaki H.
      • Taguchi T.
      • Tanaka Y.
      • Nishizawa M.
      • Saito K.
      • Matsubara Y.
      • Nakano I.
      Identification of GFAP gene mutation in hereditary adult-onset Alexander disease.
      ], is well known. In addition, some patients with signal abnormalities in the anterior portion of the medulla oblongata have been reported, and Yoshida et al. called the findings the “eye spot” of the Taenaris sign [
      • Yoshida T.
      • Mizuta I.
      • Saito K.
      • Kimura Y.
      • Park K.
      • Ito Y.
      • Haji S.
      • Nakagawa M.
      • Mizuno T.
      Characteristic abnormal signals in medulla oblongata-“eye spot” sign.
      ]. The pathological background resulting in this “eye spot” sign is not well identified. Herein, we report the case of an autopsied patient with AxD, presenting the “eye spot” sign on MRI.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Journal of the Neurological Sciences
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Srivastava S.
        • Naidu S.
        Alexander Disease. GeneReviews®[Internet].
        University of Washington, Seattle, Seattle (WA)1993–2017 (2002 Nov 15 [updated 2015 Jan 8])
        • Namekawa M.
        • Takiyama Y.
        • Aoki Y.
        • Takayashiki N.
        • Sakoe K.
        • Shimazaki H.
        • Taguchi T.
        • Tanaka Y.
        • Nishizawa M.
        • Saito K.
        • Matsubara Y.
        • Nakano I.
        Identification of GFAP gene mutation in hereditary adult-onset Alexander disease.
        Ann. Neurol. 2002; 52: 779-785
        • Yoshida T.
        • Mizuta I.
        • Saito K.
        • Kimura Y.
        • Park K.
        • Ito Y.
        • Haji S.
        • Nakagawa M.
        • Mizuno T.
        Characteristic abnormal signals in medulla oblongata-“eye spot” sign.
        Neurol. Clin. Pract. 2015; 5: 259-262
        • Maeda K.
        • Iwai K.
        • Kobayashi Y.
        • Tsuji H.
        • Yoshida T.
        • Kobayashi Y.
        A case of Alexander disease with dropped head syndrome.
        Clin. Neurol. 2018; 58 (Article in Japanese): 198-201
        • Yoshida T.
        • Yasuda R.
        • Mizuta I.
        • Nakagawa M.
        • Mizuno T.
        JAPAN Alexander Disease Study Group. Quantitative evaluation of brain stem atrophy using magnetic resonance imaging in adult patients with Alexander disease.
        Eur. Neurol. 2017; 77: 296-302
        • Jany P.L.
        • Agosta G.E.
        • Benko W.S.
        • Eickhoff J.C.
        • Keller S.R.
        • Köehler W.
        • Koeller D.
        • Mar S.
        • Naidu S.
        • Marie Ness J.
        • Pareyson D.
        • Renaud D.L.
        • Salsano E.
        • Schiffmann R.
        • Simon J.
        • Vanderver A.
        • Eichler F.
        • van der Knaap M.S.
        • Messing A.
        CSF and blood levels of GFAP in Alexander disease.
        in: ENEURO 0080-15. 2015
        • Farina L.
        • Pareyson D.
        • Minati L.
        • Ceccherini I.
        • Chiapparini L.
        • Romano S.
        • Gambaro P.
        • Fancellu R.
        • Savoiardo M.
        Can MR imaging diagnose adult-onset Alexander disease?.
        Am. J. Neuroradiol. 2008; 29: 1190-1196
        • Pareyson D.
        • Fancellu R.
        • Mariotti C.
        • Romano S.
        • Salmaggi A.
        • Carella F.
        • Girotti F.
        • Gattellaro G.
        • Carriero M.R.
        • Farina L.
        • Ceccherini I.
        • Savoiardo M.
        Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
        Brain. 2008; 131: 2321-2331
        • Wada Y.
        • Yanagihara C.
        • Nishimura Y.
        • Namekawa M.
        Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.
        J. Neurol. Sci. 2013; 331: 161-164
        • Sueda Y.
        • Takahashi T.
        • Ochi K.
        • Ohtsuki T.
        • Namekawa M.
        • Kohriyama T.
        • Takiyama Y.
        • Matsumoto M.
        Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene.
        Clin. Neurol. 2009; 49: 358-363
        • Ohnari K.
        • Yamano M.
        • Uozumi T.
        • Hashimoto T.
        • Tsuji S.
        • Nakagawa M.
        An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
        J. Neurol. 2007; 254: 1390-1394
        • Sebesto J.R.
        • van Gerpen J.A.
        Teaching video neuroimages: palatal tremor in adult-onset Alexander disease.
        Neurology. 2016; 86: e252