Mainly peripheral sensory ± autonomic nerves → HSN or HSAN
Hereditary neuropathy with liability to pressure palsies (HNPP)
Patients develop neuropathy following trivial or unrecognized nerve injury at entrapment points
IMAGING
General Features
CT Findings
MR Findings
Nonvascular Interventions
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Attarian S et al: Hereditary neuropathy with liability to pressure palsies. J Neurol. ePub, 2019
Fridman V et al: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 92(4):e359-70, 2019
Pipis M et al: Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 15(11):644-56, 2019
Schwartzlow C et al: Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep. 19(8):52, 2019
Tracy JA et al: Onion-bulb patterns predict acquired or inherited demyelinating polyneuropathy. Muscle Nerve. 59(6):665-70, 2019
Goedee SH et al: Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies. Clin Neurophysiol. 126(7):1413-20, 2015
Pitarokoili K et al: Nerve ultrasound in a case of multifocal motor neuropathy without conduction block. Muscle Nerve. 52(2):294-9, 2015
Berciano J et al: CMT1A duplication: refining the minimal adult phenotype. J Peripher Nerv Syst. 13(4):310-2, 2008
Chung KW et al: Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord. 18(8):610-8, 2008
Gallardo E et al: Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. J Neurol. 255(7):986-92, 2008
Somasundaram S et al: Hereditary spastic paraplegia with a thin corpus callosum. Pediatr Radiol. 37(5):503-5, 2007
Berciano J et al: Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. J Neurol Neurosurg Psychiatry. 77(10):1169-76, 2006
Chung KW et al: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 129(Pt 8):2103-18, 2006
Gallardo E et al: Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain. 129(Pt 2):426-37, 2006
Ellegala DB et al: Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg. 102(2):242-5, 2005
Ertl-Wagner BB et al: [Hereditary motor and sensory neuropathy (HMSN) with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions.] Radiologe. 45(7):593-6, 2005
Isoardo G et al: X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. Neurology. 65(10):1672-3, 2005
Kassubek J et al: Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. J Clin Neurosci. 12(5):588-9, 2005
Aho TR et al: Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. AJNR Am J Neuroradiol. 25(3):494-7, 2004
Kretzer RM et al: Hypertrophic neuropathy of the cauda equina: case report. Neurosurgery. 54(2):515-8; discussion 518-9, 2004
Liao JP et al: Nerve root hypertrophy in CMT type 1A. Neurology. 62(5):783, 2004
Auer-Grumbach M et al: Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol. 60(3):329-34, 2003
Graham D et al: Greenfield's Neuropathology. 7th ed. Hodder Arnold. 628-32; 2002
Moore KR et al: The value of MR neurography for evaluating extraspinal neuropathic leg pain: a pictorial essay. AJNR Am J Neuroradiol. 22(4):786-94, 2001
Cellerini M et al: MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. AJNR Am J Neuroradiol. 21(10):1793-8, 2000
Hahn M et al: Hypertrophied cauda equina presenting as intradural mass: case report and review of literature. Surg Neurol. 49(5):514-8; discussion 518-9, 1998
Calore EE et al: Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Pathologica. 86(3):279-83, 1994
Bird TD et al: Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 1993
Vasilescu C: Hereditary motor and sensory neuropathy. Clinical, genetic and electrodiagnostic studies. Rom J Neurol Psychiatry. 31(3-4):207-19, 1993
Chou SM: Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs. Clin Neuropathol. 11(3):109-14, 1992
Gemignani F et al: Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol (Berl). 83(2):196-201, 1992
Choi SK et al: MR imaging in hypertrophic neuropathy: a case of hereditary motor and sensory neuropathy, type I (Charcot-Marie-Tooth). Clin Imaging. 14(3):204-7, 1990
Mainly peripheral sensory ± autonomic nerves → HSN or HSAN
Hereditary neuropathy with liability to pressure palsies (HNPP)
Patients develop neuropathy following trivial or unrecognized nerve injury at entrapment points
IMAGING
General Features
CT Findings
MR Findings
Nonvascular Interventions
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Attarian S et al: Hereditary neuropathy with liability to pressure palsies. J Neurol. ePub, 2019
Fridman V et al: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 92(4):e359-70, 2019
Pipis M et al: Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 15(11):644-56, 2019
Schwartzlow C et al: Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep. 19(8):52, 2019
Tracy JA et al: Onion-bulb patterns predict acquired or inherited demyelinating polyneuropathy. Muscle Nerve. 59(6):665-70, 2019
Goedee SH et al: Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies. Clin Neurophysiol. 126(7):1413-20, 2015
Pitarokoili K et al: Nerve ultrasound in a case of multifocal motor neuropathy without conduction block. Muscle Nerve. 52(2):294-9, 2015
Berciano J et al: CMT1A duplication: refining the minimal adult phenotype. J Peripher Nerv Syst. 13(4):310-2, 2008
Chung KW et al: Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord. 18(8):610-8, 2008
Gallardo E et al: Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. J Neurol. 255(7):986-92, 2008
Somasundaram S et al: Hereditary spastic paraplegia with a thin corpus callosum. Pediatr Radiol. 37(5):503-5, 2007
Berciano J et al: Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. J Neurol Neurosurg Psychiatry. 77(10):1169-76, 2006
Chung KW et al: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 129(Pt 8):2103-18, 2006
Gallardo E et al: Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain. 129(Pt 2):426-37, 2006
Ellegala DB et al: Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg. 102(2):242-5, 2005
Ertl-Wagner BB et al: [Hereditary motor and sensory neuropathy (HMSN) with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions.] Radiologe. 45(7):593-6, 2005
Isoardo G et al: X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. Neurology. 65(10):1672-3, 2005
Kassubek J et al: Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. J Clin Neurosci. 12(5):588-9, 2005
Aho TR et al: Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. AJNR Am J Neuroradiol. 25(3):494-7, 2004
Kretzer RM et al: Hypertrophic neuropathy of the cauda equina: case report. Neurosurgery. 54(2):515-8; discussion 518-9, 2004
Liao JP et al: Nerve root hypertrophy in CMT type 1A. Neurology. 62(5):783, 2004
Auer-Grumbach M et al: Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol. 60(3):329-34, 2003
Graham D et al: Greenfield's Neuropathology. 7th ed. Hodder Arnold. 628-32; 2002
Moore KR et al: The value of MR neurography for evaluating extraspinal neuropathic leg pain: a pictorial essay. AJNR Am J Neuroradiol. 22(4):786-94, 2001
Cellerini M et al: MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. AJNR Am J Neuroradiol. 21(10):1793-8, 2000
Hahn M et al: Hypertrophied cauda equina presenting as intradural mass: case report and review of literature. Surg Neurol. 49(5):514-8; discussion 518-9, 1998
Calore EE et al: Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Pathologica. 86(3):279-83, 1994
Bird TD et al: Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 1993
Vasilescu C: Hereditary motor and sensory neuropathy. Clinical, genetic and electrodiagnostic studies. Rom J Neurol Psychiatry. 31(3-4):207-19, 1993
Chou SM: Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs. Clin Neuropathol. 11(3):109-14, 1992
Gemignani F et al: Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol (Berl). 83(2):196-201, 1992
Choi SK et al: MR imaging in hypertrophic neuropathy: a case of hereditary motor and sensory neuropathy, type I (Charcot-Marie-Tooth). Clin Imaging. 14(3):204-7, 1990