A novel familial prion disease causing pan‐autonomic‐sensory neuropathy and cognitive impairment

Matsuzono, Kosuke; Ikeda, Yoshio; Liu, Wentao; Kurata, Tomoko; Deguchi, Shoko; Deguchi, Kentaro; Abe, Kōji

doi:10.1111/ene.12089

Cited by 29 publications

(30 citation statements)

References 7 publications

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“…Our experience was with two patients (patient 1, sister; patient 2, brother). Their mother also had similar symptoms; the clinical findings and molecular genetics of patient 1 at age 34 were reported previously . After our first report, patient 1's younger brother (patient 2) developed the same symptoms (Fig.…”

Section: Methodssupporting

confidence: 76%

‘PrP systemic deposition disease’: clinical and pathological characteristics of novel familial prion disease with 2‐bp deletion in codon 178

Matsuzono

Honda

Sato

et al. 2015

Euro J of Neurology

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Section: Methodssupporting

confidence: 76%

‘PrP systemic deposition disease’: clinical and pathological characteristics of novel familial prion disease with 2‐bp deletion in codon 178

Matsuzono

Honda

Sato

et al. 2015

Euro J of Neurology

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“…Truncating mutations of PRNP gene were first described at codon 145, which was associated with an AD-like dementia, with PrP-amyloid in the cortex and cerebral vasculature, as well as a severe tauopathy [3, 9]. Nonsense mutations at PRNP codons 163 [6, 7, 28], 178 [5], 186 [22], 226 [8], and 227 [8] have been reported previously, several of which have been associated with PrP-amyloid neuropathology and clinical syndromes consistent with HSAN, AD, or GSS. Though one patient with a Q227X mutation had a clinical diagnosis of frontotemporal dementia, the report did not provide sufficient information as to whether she met research criteria for bvFTD, and her progressive hypokinetic, rigid syndrome with dementia differed from our case [8].…”

Section: Discussionmentioning

confidence: 99%

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

Fong

Rojas

Bang

et al. 2016

JAD

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Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including those with dysautonomia and peripheral neuropathy. We describe the neurological, cognitive, neuroimaging, and electrophysiological features of a 31-year-old man presenting with an orbitofrontal syndrome, gastrointestinal symptoms, and peripheral neuropathy associated with PRNP Q160X nonsense mutation, with symptom onset at age 27. The mutation was also detected in his asymptomatic father and a symptomatic paternal cousin; several members of prior generations died from early onset dementia. This is the first report of a family affected with the nonsense PRNP mutation Q160X displaying clear autosomal dominant disease in multiple family members and reduced penetrance. This case strengthens the evidence suggesting an association between PRNP truncating mutations and prion systemic amyloidosis. PRNP gene testing should be considered in any patient with atypical dementia, especially with early onset and neuropathy, even in the absence of a family history.

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“…Although we were unable to analyze the gene of the patient's mother due to her death, the prion gene of her father was normal. We previously reported this familial case of a prion gene mutation involving a 2-bp deletion (CT) in codon 178 (5). The affected family members exhibited a unique phenotype consisting of severe pan-autonomic failure, sensory neuropathy and mild cognitive impairment caused by this novel prion gene mutation.…”

Section: Case Reportmentioning

confidence: 99%

Single Photon Emission Computed Tomography (SPECT) Findings of a Patient with a Novel Prion Mutation

et al. 2015

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We experienced a unique case of familial prion disease with a prion gene mutation that caused panautonomic failure, sensory neuropathy and mild cognitive impairment. No abnormal sites of intensity were observed on diffusion-weighted magnetic resonance image (MRI) over six to 11 years or fluid attenuated inversion recovery MRI at six or nine years. However, Tc-ethylcysteinate dimer single photon emission computed tomography (SPECT) showed a decreased cerebral blood flow in the bilateral parietal and occipital lobes at nine years, which then expanded at 11 years, corresponding to mild atrophy in these areas on MRI. In some cases of prion mutations, particularly the slowly progressive type, SPECT may show abnormalities, while MRI does not.

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A novel familial prion disease causing pan‐autonomic‐sensory neuropathy and cognitive impairment

Cited by 29 publications

References 7 publications

‘PrP systemic deposition disease’: clinical and pathological characteristics of novel familial prion disease with 2‐bp deletion in codon 178

‘PrP systemic deposition disease’: clinical and pathological characteristics of novel familial prion disease with 2‐bp deletion in codon 178

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

Single Photon Emission Computed Tomography (SPECT) Findings of a Patient with a Novel Prion Mutation

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