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Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

Abstract This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title croatian medical journal
Publication Year Start




PMID- 28857524
OWN - NLM
STAT- MEDLINE
DA  - 20170831
DCOM- 20170907
LR  - 20170908
IS  - 1332-8166 (Electronic)
IS  - 0353-9504 (Linking)
VI  - 58
IP  - 4
DP  - 2017 Aug 31
TI  - Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body
      myositis: report of two cases.
PG  - 310-315
AB  - This report describes unique presentations of inclusion body myositis (IBM) in
      two unrelated patients, one male and one female, with genetically and
      histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We 
      summarize overlapping symptoms between two disorders, clinical course, and
      histopathological analyses of the two patients with FXTAS and sporadic IBM,
      clinically defined per diagnostic criteria of the European Neuromuscular Centre. 
      In case 1, a post-mortem analysis of available brain and muscle tissues is also
      described. Histopathological features (rimmed vacuoles) consistent with
      clinically defined IBM were detected in both presented cases. Postmortem testing 
      in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats
      in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 
      71 CGG repeats who had a son with FXS. Given that FXTAS is associated with
      immune-mediated disorders among premutation carriers, it is likely that the
      pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first
      report of these two conditions presenting together, which expands our
      understanding of clinical symptoms and unusual presentations in patients with
      FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS
      patients with severe muscle pain should be assessed for IBM.
FAU - Lechpammer, Mirna
AU  - Lechpammer M
AD  - Mirna Lechpammer, Department of Pathology and Laboratory Medicine, UC Davis
      Health System, 4400 V St. Sacramento, CA 95817, USA, [email protected]
FAU - Martinez Cerdeno, Veronica
AU  - Martinez Cerdeno V
FAU - Hunsaker, Michael Ryan
AU  - Hunsaker MR
FAU - Hah, Mina
AU  - Hah M
FAU - Gonzales, Hilary
AU  - Gonzales H
FAU - Tisch, Steve
AU  - Tisch S
FAU - Joffe, Ronald
AU  - Joffe R
FAU - Pamphlett, Roger
AU  - Pamphlett R
FAU - Tassone, Flora
AU  - Tassone F
FAU - Hagerman, Paul J
AU  - Hagerman PJ
FAU - Bolitho, Samuel J
AU  - Bolitho SJ
FAU - Hagerman, Randi J
AU  - Hagerman RJ
LA  - eng
GR  - R01 HD036071/HD/NICHD NIH HHS/United States
GR  - R01 HD040661/HD/NICHD NIH HHS/United States
GR  - R01 MH094681/MH/NIMH NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PL  - Croatia
TA  - Croat Med J
JT  - Croatian medical journal
JID - 9424324
RN  - Fragile X Tremor Ataxia Syndrome
SB  - IM
MH  - Aged
MH  - Ataxia/*complications
MH  - Fatal Outcome
MH  - Female
MH  - Fragile X Syndrome/*complications
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myositis, Inclusion Body/*complications
MH  - Tremor/*complications
PMC - PMC5577649
EDAT- 2017/09/01 06:00
MHDA- 2017/09/08 06:00
CRDT- 2017/09/01 06:00
PST - ppublish
SO  - Croat Med J. 2017 Aug 31;58(4):310-315.