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A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene

Ling Long, Xiaodong Cai, Yaqing Shu and Zhengqi Lu
Neurosciences Journal April 2017, 22 (2) 138-142; DOI: https://doi.org/10.17712/nsj.2017.2.20160522

Article Figures & Data

Figures

  • Figure 1
    Figure 1

    - Family tree of the pedigree. Eight members across 3 generations were involved. All have died been dead except the proband.

  • Figure 2
    Figure 2

    - Magnetic resonance imaging (MRI) of the brain and spinal cord. Brain MRI showed existence of cavum vergae long arrow on panel (A), and relatively deep sulcuses short arrow on panels (A and B) suggesting mild diffuse brain atrophy (A, B). Intervertebral herniation in cervical 5/6 (C5/6) long arrow on panels (C and D) and C6/7 short arrow on panel (C) was detected by cervical spinal cord MRI, with mild degeneration of the associated spinal cord.

  • Figure 3
    Figure 3

    - Gene mapping of the patient. A missense mutation (C to T) was identified at nt 305 in one allele of the prion protein gene (PRNP), leading to a proline (Pro) to leucine (Leu) change at codon 102.

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