Faculty Opinions recommendation of Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study.

Primary progressive aphasia (PPA) forms the spectrum of language variants of frontotemporal lobar degeneration (FTLD), including three subtypes each consisting of distinctive speech and language features. Repeat expansion in C9orf72 gene is the most common genetic cause of FTLD. However, thus far only little is known about the effects of the C9orf72 repeat expansion on the phenotype of PPA. This retrospective study aimed at determining the differences between the PPA phenotypes of the C9orf72 expansion carriers and non-carriers. Our results demonstrated no significant differences between these groups, indicating that the C9orf72 repeat expansion does not substantially affect the phenotype of PPA.

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Prevalence of immunological diseases in a Finnish frontotemporal lobar degeneration cohort with the C9orf72 repeat expansion carriers and non-carriers

Journal of Neuroimmunology ◽

10.1016/j.jneuroim.2018.05.011 ◽

2018 ◽

Vol 321 ◽

pp. 29-35 ◽

Cited By ~ 6

Author(s):

Kasper Katisko ◽

Eino Solje ◽

Anne M. Koivisto ◽

Johanna Krüger ◽

Tuure Kinnunen ◽

...

Keyword(s):

Frontotemporal Lobar Degeneration ◽

Repeat Expansion ◽

C9orf72 Repeat Expansion ◽

Immunological Diseases

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C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing

Neurodegenerative Diseases ◽

10.1159/000492499 ◽

2018 ◽

Vol 18 (5-6) ◽

pp. 239-253 ◽

Cited By ~ 2

Author(s):

Cristiane M. Ida ◽

Malinda L. Butz ◽

Patrick A. Lundquist ◽

D. Brian Dawson

Keyword(s):

Genetic Testing ◽

Huntington Disease ◽

Methylation Status ◽

Repeat Expansion ◽

Small Subset ◽

C9orf72 Repeat Expansion ◽

Specific Pcr ◽

Status Assessment ◽

Intermediate Alleles

Background: European studies identified the C9orf72 repeat expansion as the most frequent genetic alteration in patients with Huntington disease (HD)-like phenotypes but negative HD genetic testing. Objective: To investigate C9orf72 repeat expansion frequency in individuals tested for HD in a North American tertiary referral laboratory. Methods: Three hundred and seventy-three cases (115 positive and 258 negative for HD) were evaluated by genotyping PCR, with follow-up Southern blot and 5′ repeat methylation status assessment by combined repeat-primed and methylation-specific PCR in a subset. Results: Three cases (all HD-negative) tested positive: 2 had > 2,000 repeats and were methylated, 1 had 80–100 repeats and was unmethylated. Two cases (1 HD-positive and 1 HD-negative) had intermediate alleles (20–29 repeats) and were unmethylated. The remaining 368 cases were negative (< 20 repeats). C9orf72 repeat expansion was absent in patients with HD and was identified in a small subset (1.2%) of patients with negative HD genetic testing. Conclusion: These findings suggest that C9orf72 repeat expansion does not coexist with HTT repeat expansion and that C9orf72 repeat expansion testing is unnecessary for patients with HD. In addition, C9orf72 evaluation may be considered for individuals negative for HD genetic testing. Similar to in previous studies, methylation of C9orf72 repeat expansion was limited to large expansions.

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Electron Microscopy of Human Gallstones

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100065523 ◽

1971 ◽

Vol 29 ◽

pp. 296-297

Author(s):

C. Wolpers ◽

R. Blaschke

Keyword(s):

Electron Microscopy ◽

Room Temperature ◽

Bile Pigment ◽

X Ray Diffraction ◽

Triclinic Crystal System ◽

X Ray ◽

Follow Up Study ◽

Infra Red ◽

Main Components

Scanning microscopy was used to study the surface of human gallstones and the surface of fractures. The specimens were obtained by operation, washed with water, dried at room temperature and shadowcasted with carbon and aluminum. Most of the specimens belong to patients from a series of X-ray follow-up study, examined during the last twenty years. So it was possible to evaluate approximately the age of these gallstones and to get information on the intensity of growing and solving.Cholesterol, a group of bile pigment substances and different salts of calcium, are the main components of human gallstones. By X-ray diffraction technique, infra-red spectroscopy and by chemical analysis it was demonstrated that all three components can be found in any gallstone. In the presence of water cholesterol crystallizes in pane-like plates of the triclinic crystal system.

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