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Case ReportCase Report
Open Access

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features

Murat Gultekin, Ruslan Bayramov, Cagatay Karaca and Niyazi Acer
Neurosciences Journal January 2018, 23 (1) 57-61; DOI: https://doi.org/10.17712/nsj.2018.1.20170328
Murat Gultekin
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
MD
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  • For correspondence: [email protected]
Ruslan Bayramov
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
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Cagatay Karaca
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
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Niyazi Acer
From the Department of Neurology (Gultekin), Department of Medical Genetics (Bayramov), Department of Ophthalmology (Karaca), Department of Anatomy (Acer), Erciyes University School of Medicine, Kayseri, Turkey
PhD
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References

  1. ↵
    1. Urbanski G,
    2. Bekri S,
    3. Barth M,
    4. Verny C,
    5. Lavigne C
    (2014) A case of type I sialidosis with osteonecrosis revealing a new mutation in NEU1. Journal of Inborn Errors of Metabolism and Screening 2, 2326409814543468.
  2. ↵
    1. Scriver CR,
    2. Beaudet AL,
    3. Sly WA,
    4. Valle D
    1. Thomas GH,
    2. Beaudet A
    (1995) Disorders of glycoprotein degradation: a-mannosidosis, b-mannosidosis, sialidosis, aspartylglucosaminuria, and carbohydrate-deficient glycoprotein syndrome. in The Molecular and Metabolic Bases for Inherited Disease, eds Scriver CR, Beaudet AL, Sly WA, Valle D (McGraw-Hill Book Co, New York (NY)), Sixth ed, 2529–2561.
  3. ↵
    1. Lukong KE,
    2. Elsliger MA,
    3. Chang Y,
    4. Richard C,
    5. Thomas G,
    6. Carey W,
    7. et al.
    (2000) Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Human molecular genetics 9, 1075–1085.
  4. ↵
    1. Lu CS,
    2. Ng SH,
    3. Lai SC,
    4. Kao LY,
    5. Liu L,
    6. Lin WY,
    7. et al.
    (2017) Cortical damage in the posterior visual pathway in patients with sialidosis type 1. Brain Imaging Behav 11, 214–223.
  5. ↵
    1. Kersten HM,
    2. Roxburgh RH,
    3. Danesh-Meyer HV,
    4. Hutchinson DO
    (2016) Optical coherence tomography findings in a patient with type 1 sialidosis. J Clin Neurosci 31, 199–201.
  6. ↵
    1. Kojovic M,
    2. Cordivari C,
    3. Bhatia K
    (2011) Myoclonic disorders: a practical approach for diagnosis and treatment. Ther Adv Neurol Disord 4, 47–62.
  7. ↵
    1. Brown P,
    2. Ridding M,
    3. Werhahn K,
    4. Rothwell J,
    5. Marsden C
    (1996) Abnormalities of the balance between inhibition and excitation in the motor cortex of patients with cortical myoclonus. Brain 119, 309–317.
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Neurosciences Journal: 23 (1)
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Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
Murat Gultekin, Ruslan Bayramov, Cagatay Karaca, Niyazi Acer
Neurosciences Journal Jan 2018, 23 (1) 57-61; DOI: 10.17712/nsj.2018.1.20170328

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Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
Murat Gultekin, Ruslan Bayramov, Cagatay Karaca, Niyazi Acer
Neurosciences Journal Jan 2018, 23 (1) 57-61; DOI: 10.17712/nsj.2018.1.20170328
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