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AMYLOIDOSIS

Amyloid
General clinical features

AL: Acquired PNS
CNS Amyloidosis
Hereditary PNS amyloid
  Transthyretin
  Apolipoprotein A1
  Gelsolin
  β2-microglobulin
Myopathy
  LGMD 2B
Non-neurologic amyloid
Pathology

Neuropathy, Amyloid-like

Amyloid around vessel (Arrow)
Loss of smaller myelinated axons


GENERAL FEATURES
ACQUIRED AMYLOIDOSIS
HEREDITARY PNS AMYLOIDOSIS
General
Amyloidosis: Transthyretin-related
  Transthyretin (TTR) ; Chromosome 18q12.1; Dominant


Amyloidosis, Familial Visceral (ApoA1; FAP III; "Iowa" type)
  Apolipoprotein A-1 (APOA1) ; Chromosome 11q23.3; Dominant

Amyloidosis (Gelsolin; FAP IV; "Finnish" (also Japanese) type )
  Gelsolin (GSN) ; Chromosome 9q33.2; Dominant
Amyloidosis (β2-Microglobulin) 4
  β2-Microglobulin (B2M) ; Chromosome 15q21.1; Dominant
OTHER AMYLOIDOSIS

NON-NEUROLOGIC
ClassificationAssociated featuresProtein component
SecondaryRheumatoid arthritis
Inflammatory disorders
Leprosy: Chronic
Serum Amyloid A (SAA)
SAA1 & SAA2 ;
  SAA4
2M (Dialysis-associated)Carpal tunnel syndrome
Cysts: Bone; Tendon sheath
Tendonitis: Hand; Shoulder
Joint effusions& pain
Myelopathy
β2-microglobulin
AIAPP (Pancreatic amyloid) Diabetes mellitus type 2
Insulinomas
Islet amyloid polypeptide
APro Aging pituitary
Prolactinoma
Prolactin
AKerSkinKeratins
AInsIatrogenicInsulin
AMedAortic media (Aging)MFGE8 (Medin)
AANFCardiac atrial depositsAtrial natriuretic factor
Senile SystemicCardiopathic; Carpal tunnelTransthyretin (normal)
AFCardiopathicTransthyretin (mutation)
ALPrimary
Myeloma associated
Immunoglobulin light chain
AHPrimary
Myeloma associated
Immunoglobulin heavy chain
ACalC cell thyroid tumors(Pro)calcitonin
? ALacCorneaLactotransferrin
AKer Corneal dystrophies
 
TGFBI
AGel Cornea
Neuropathy
Gelsolin
Lattice corneal dystrophy
Type IIIA
Corneal dystrophy & masses
Cataracts
M1S1
Familial Mediterranean fever Renal disease
Abdominal pain
SAA
1° cause: Pyrin
Treatment: Colchicine
Familial Visceral
  (AFib; AApoAI; ALys)
Renal disease
Organomegaly
Fibrinogen, α-chain
Apolipoprotein A-1
Lysozyme
Muckle-Wells syndrome Cold urticaria
Deafness
Renal amyloidosis
NLRP3 (CIAS1)
ALys Renal
Visceral
Lysozyme
Multiple endocrine neoplasia
Type 2A
Thyroid carcinoma
Medullary, with amyloid
Pheochromocytoma
Parathyroid adenomas
Cutaneous
Notalgia paresthetica:
T2-T6 posterior rami
RET oncogene
Primary Cutaneous (PLCA1) Skin Oncostatin M receptor-beta
  (OSMR)
Primary Cutaneous (PLCA2) Skin Interleukin 31 receptor A
  (IL31RA)
 
CNS
ClassificationDisease SyndromesProtein
ACys (Amyloidosis VI) Cerebral amyloid angiopathy Cystatin C
Aβ (Amyloid β A4) Alzheimer's disease
Cerebral amyloid angiopathy
Amyloid β A4 precursor
protein (APP)
Amyloid β42 Alzheimer's disease Presenilin 1
Presenilin 2
α-Synuclein Parkinson's disease α-Synuclein
Amyloidoma   AL λ
APrPsc Spongiform encephalopathy Prion protein
Dysferlin Alzheimer disease
LGMD 2B
Dysferlin


Amyloid myopathy



Amyloidoma


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References
1. Arch Neurol 2001;58:1914-1918
2. J Neuropath Exp Neurol 2002;61:565-571
3. Science 2003;299:713-716
4. N Engl J Med 2012;366:2276-2283
5. J Peripher Nerv Syst 2012;17:385-390
6. JAMA 2013;310:2658-2667

12/30/2013