Isolated amyloidosis presenting with lumbosacral radiculoplexopathy: description of two cases and pathogenic review

Ladha, Shafeeq; Dyck, Peter J.; Spinner, Robert J.; Pérez, Domingo G.; Zeldenrust, Steven R.; Amrami, Kimberly K.; Solomon, Alan; Klein, Christopher J.

doi:10.1111/j.1529-8027.2006.00107.x

Cited by 31 publications

(20 citation statements)

References 20 publications

(17 reference statements)

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“…The TTR patient with no sequencing finding had report of positive family history and unspecified TTR mutation confirmation in one first degree relative based on the records from another institution. One patient (case 7) we previously reported 4 had lumbosacral root biopsy for an amyloidoma affecting the cauda equine, and kappa amyloid was identified in this case. Two cases (case 8 with AL-IGK and case 19 with ATTR) had neuropathy with focal sciatic enlargements or conduction blocks that lead to proximal targeted fascicular nerve biopsy.…”

Section: Resultsmentioning

confidence: 69%

“…Infiltration of amyloid typically occurs in distal peripheral nerves including autonomic small fibers, 2 occasionally in isolated proximal plexus and spinal roots, which is referred to as amyloidomas. 4 Peripheral nerve tissue involvements are frequently the initial presenting feature of systemic amyloidosis. 5, 6 The known amyloid proteins associated with neuropathy include immunoglobulin kappa (IGK) or lambda (IGL) light chains, transthyretin (TTR), gelsolin (GSN), and most rarely apolipoprotein A1 (ApoA1).…”

Section: Introductionmentioning

confidence: 99%

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Mass Spectrometric–Based Proteomic Analysis of Amyloid Neuropathy Type in Nerve Tissue

Klein¹,

Vrana²,

Theis³

et al. 2011

Arch Neurol

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To determine the specific type of amyloid from nerve biopsies using laser microdissection (LMD) and mass spectrometric (MS)-based proteomic analysis.Design, Setting, and Patients: Twenty-one nerve biopsy specimens (17 sural, 3 sciatic, and 1 root amyloidoma) infiltrated by amyloid were studied. Immunohistochemical subtyping was unable to determine the specific amyloid type for these 21 cases, but the clinical diagnosis was made based on additional testing. Clinical diagnosis was made through evaluation of serum monoclonal proteins, biopsy of bone marrow for acquired monoclonal immunoglobulin light chain amyloidosis, and kindred evaluations with DNA sequencing of transthyretin (TTR) and gelsolin (GSN) genes. Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced). One patient with transthyretin amyloidosis and 1 patient with gelsolin amyloidosis with no specific mutation identified were diagnosed based on genetic confirmation in their first-degree relative. Congophilic proteins in the tissues of these 21 cases underwent LMD, were di-gested into tryptic peptides, and were analyzed using liquid chromatography electrospray tandem MS. Identified proteins were reviewed using bioinformatics tools with interpreters blinded to clinical information.Main Outcome Measure: Specific amyloid type was ascertained by LMD tandem MS and compared with clinical diagnosis.Results: Specific types of amyloid were accurately detected by LMD/MS in all cases (8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 2 cases of gelsolin amyloidosis, and 11 cases of transthyretin amyloidosis). Incidental serum monoclonal proteins did not interfere with detection of transthyretin amyloidosis in 2 patients. Additionally, specific TTR mutations were identified in 10 cases by LMD/MS. Serum amyloid P-component and apolipoprotein E proteins were commonly found among all cases.Conclusions: Proteomic analysis of nerve tissue using LMD/MS distinguishes specific types of amyloid independent of clinical information. This new proteomic approach will enhance both diagnostic and research efforts in amyloidosis and other neurologic diseases.

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Section: Resultsmentioning

confidence: 69%

Section: Introductionmentioning

confidence: 99%

Mass Spectrometric–Based Proteomic Analysis of Amyloid Neuropathy Type in Nerve Tissue

Klein¹,

Vrana²,

Theis³

et al. 2011

Arch Neurol

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“…11–13 Amyloid neuropathy is characterized by prominent, early involvement of somatic and autonomic “c” fibers, leading to a length dependent, symmetric syndrome of thermanesthesia, autonomic symptoms, and burning neuropathic pain. 14, 15 However, it is recognized that all nerve segments and fiber types can be involved to greater or lesser degrees, with all patterns of peripheral neural involvement reported, 16–21 according amyloid its status as one of the hallmark mimics among peripheral nerve diseases. Neuropathy accompanied by prominent autonomic failure and end-organ involvement manifesting in gastrointestinal dysmotility, erectile dysfunction, orthostatic hypotension, and heart failure is highly suspicious for amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox?

Loavenbruck

Singer

Mauermann

et al. 2016

Annals of Neurology

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Objective To systematically compare transthyretin with primary amyloid neuropathy to define their natural history and the underlying mechanisms for differences in phenotype and natural history. Methods All patients with defined amyloid subtype and peripheral neuropathy who completed autonomic testing and EMG at Mayo Clinic Rochester between 1993 and 2013 were included. Medical records were reviewed for time of onset of defined clinical features. The degree of autonomic impairment was quantified using the composite autonomic severity scale. Comparisons were made between acquired and inherited forms of amyloidosis. Results 101 cases of amyloidosis with peripheral neuropathy were identified, 60 primary and 41 transthyretin. 20 transthyretin cases were found to have Val30Met mutations, 21 had other mutations. Compared to primary cases, transthyretin cases had longer survival, longer time to diagnosis, higher composite autonomic severity scale scores, greater reduction of upper limb nerve conduction study amplitudes, more frequent occurrence of weakness, and later nonneuronal systemic involvement. Four systemic markers (cardiac involvement by echocardiogram; weight loss over 10 pounds; orthostatic intolerance; fatigue) in combination were highly predictive of poor survival in both groups. Interpretation These findings suggest that transthyretin has earlier and greater predilection for neural involvement and more delayed systemic involvement. The degree and rate of systemic involvement is most closely related to prognosis.

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“…It has also been reported in the sciatic nerve,3 infraorbital nerve,4 nerve fibers of the anterior cervical region,5 and brachial plexus 6. A recent report showed involvement of lumbosacral roots and plexus 7. No evidence of associated systemic amyloidosis has been documented in patients with amyloidomas of the peripheral nerves 2…”

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confidence: 97%

Patient with amyloidoma of the ulnar nerve and salivary glands

2009

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Amyloidomas of the peripheral nervous system have been reported rarely. We describe a patient with a history of localized amyloidosis of the salivary glands who presented a few years later with paresthesias of her left medial arm, forearm, and fifth digit. A mass affecting the left ulnar nerve was confirmed by MRI studies. It was excised and proven on pathological examination to be an amyloidoma. The benign course of this patient's illness is consistent with localized amyloidosis affecting two different organs.

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Isolated amyloidosis presenting with lumbosacral radiculoplexopathy: description of two cases and pathogenic review

Cited by 31 publications

References 20 publications

Mass Spectrometric–Based Proteomic Analysis of Amyloid Neuropathy Type in Nerve Tissue

Mass Spectrometric–Based Proteomic Analysis of Amyloid Neuropathy Type in Nerve Tissue

Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox?

Patient with amyloidoma of the ulnar nerve and salivary glands

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