PMID- 10071047
OWN - NLM
STAT- MEDLINE
DCOM- 19990318
LR  - 20190513
IS  - 0006-8950 (Print)
IS  - 0006-8950 (Linking)
VI  - 122 ( Pt 2)
DP  - 1999 Feb
TI  - Transthyretin Leu12Pro is associated with systemic, neuropathic and
      leptomeningeal amyloidosis.
PG  - 183-90
AB  - We report a middle-aged woman with a novel transthyretin (TTR) variant, Leu12Pro.
      She had extensive amyloid deposition in the leptomeninges and liver as well as
      the involvement of the heart and peripheral nervous system which characterizes
      familial amyloid polyneuropathy caused by variant TTR. Clinical features
      attributed to her leptomeningeal amyloid included radiculopathy, central
      hypoventilation, recurrent subarachnoid haemorrhage, depression, seizures and
      periods of decreased consciousness. MRI showed a marked enhancement throughout
      her meninges and ependyma, and TTR amyloid deposition was confirmed by meningeal 
      biopsy. The simultaneous presence of extensive visceral amyloid and clinically
      significant deposits affecting both the peripheral and central nervous system
      extends the spectrum of amyloid-related disease associated with TTR mutations.
      The unusual association of severe peripheral neuropathy with symptoms of
      leptomeningeal amyloid indicates that leptomeningeal amyloidosis should be
      considered part of the syndrome of TTR-related familial amyloid polyneuropathy.
FAU - Brett, M
AU  - Brett M
AD  - Neurology Department, Royal Postgraduate Medical School, Hammersmith Hospital,
      London, UK.
FAU - Persey, M R
AU  - Persey MR
FAU - Reilly, M M
AU  - Reilly MM
FAU - Revesz, T
AU  - Revesz T
FAU - Booth, D R
AU  - Booth DR
FAU - Booth, S E
AU  - Booth SE
FAU - Hawkins, P N
AU  - Hawkins PN
FAU - Pepys, M B
AU  - Pepys MB
FAU - Morgan-Hughes, J A
AU  - Morgan-Hughes JA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Brain
JT  - Brain : a journal of neurology
JID - 0372537
RN  - 0 (Iodine Radioisotopes)
RN  - 0 (Prealbumin)
RN  - 0 (Serum Amyloid P-Component)
RN  - 9DLQ4CIU6V (Proline)
RN  - AU0V1LM3JT (Gadolinium)
RN  - GMW67QNF9C (Leucine)
SB  - IM
MH  - Adult
MH  - Amyloid Neuropathies/diagnostic imaging/*genetics/pathology
MH  - Ependyma/blood supply/pathology
MH  - Exons/genetics
MH  - Female
MH  - Gadolinium
MH  - Genetic Variation
MH  - Humans
MH  - Iodine Radioisotopes
MH  - Kidney/diagnostic imaging
MH  - Leucine
MH  - Liver/diagnostic imaging
MH  - Magnetic Resonance Imaging
MH  - Meninges/blood supply/pathology
MH  - Phenotype
MH  - *Point Mutation
MH  - Polymorphism, Genetic
MH  - Prealbumin/*genetics
MH  - Proline
MH  - Radionuclide Imaging
MH  - Sequence Analysis, DNA
MH  - Serum Amyloid P-Component/metabolism/pharmacokinetics
MH  - Spleen/diagnostic imaging
EDAT- 1999/03/10 00:00
MHDA- 1999/03/10 00:01
CRDT- 1999/03/10 00:00
PHST- 1999/03/10 00:00 [pubmed]
PHST- 1999/03/10 00:01 [medline]
PHST- 1999/03/10 00:00 [entrez]
AID - 10.1093/brain/122.2.183 [doi]
PST - ppublish
SO  - Brain. 1999 Feb;122 ( Pt 2):183-90. doi: 10.1093/brain/122.2.183.