Cranial nerve involvement in Charcot–Marie–Tooth Disease

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the <b><i>MPZ</i></b> Gene

“…In addition to vestibular and auditory cranial nerve involvement, other cranial nerves have been described as being affected in various genetic subtypes of CMT, including electrophysiologic involvement of cranial nerves VII, IX, and XII in CMT1A [Kumagai-Eto et al, 2004], subclinical abnormalities in cranial nerves III and V and unilateral cranial nerve III palsy in CMT1A [Posa et al, 2017], abnormalities in cranial nerves V and VII as detected by enlargement of the cranial foramina using MRI and CT, but without clinical symptoms in CMT1A [Das et al, 2017], involvement of cranial nerves III, V, and VII as detected by radiographic analysis of cranial nerve foramina by CT and MRI in CMT1A [Aho et al, 2004], cranial nerve X involvement in CMT of undefined subtype causing bilateral abductor vocal cord paralysis [Hollinger et al, 1979], electrophysiologic abnormalities of cranial nerves II, VII, and VIII in CMT1A [Triantafyllou et al, 1989], and electrophysiologic abnormalities of cranial nerve VII in CMT1A and in CMT3 [Glocker et al, 1999]. In addition, involvement of cranial nerves III, VIII, and X has been described in CMT1D [Pareyson et al, 2000], vocal cord paresis and dysfunction of cranial nerve III in CMT2C [Chen et al 2010], involvement of cranial nerve VII, IX, and X, in CMT3 [Boerkoel et al, 2001], vocal cord paresis in 8 out of 9 patients, and phrenic nerve dysfunction in 8 out of 8 patients in CMT4A [Sevilla et al, 2008], facial weakness in CMT4B3 [Manole et al, 2017], and involvement of cranial nerves VII, VIII, IX, and X in CMT4C [Gooding et al, 2005;Colomer et al, 2006;Yger et al, 2012].…”

“…In addition, involvement of cranial nerves III, VIII, and X has been described in CMT1D [Pareyson et al, 2000], vocal cord paresis and dysfunction of cranial nerve III in CMT2C [Chen et al 2010], involvement of cranial nerve VII, IX, and X, in CMT3 [Boerkoel et al, 2001], vocal cord paresis in 8 out of 9 patients, and phrenic nerve dysfunction in 8 out of 8 patients in CMT4A [Sevilla et al, 2008], facial weakness in CMT4B3 [Manole et al, 2017], and involvement of cranial nerves VII, VIII, IX, and X in CMT4C [Gooding et al, 2005;Colomer et al, 2006;Yger et al, 2012]. Despite electrophysiologic or radiologic evidence of cranial nerve involvement, in many cases there was no clinical evidence of dysfunction [Glocker et al, 1999;Kumagai-Eto et al, 2004;Das et al, 2017]. This is consistent with the findings in the current case in which there was no clinical evidence of vestibular or facial dysfunction, despite histologic evidence of a myelinopathy of both vestibular and facial nerves.…”

Prevalence and significance of cranial nerve imaging abnormalities in patients with hereditary neuropathies: Clinical implications at the skull base

“…The HMSN disease processes preferentially impact the larger and longer neuronal fibers of the extremities . Cranial nerve (CN) involvement can occur, clinically or radiographically, but is less frequently reported …”

“…Pathologic involvement of CNs on imaging in patients with hereditary neuropathy is limited to case reports (Table ) . Described abnormalities on magnetic resonance imaging (MRI) include smooth thickening, mild enhancement with gadolinium, or both of varied CNs . Computed tomography (CT) has identified enlargement of skull base foramina .…”

“…Described abnormalities on magnetic resonance imaging (MRI) include smooth thickening, mild enhancement with gadolinium, or both of varied CNs . Computed tomography (CT) has identified enlargement of skull base foramina . Imaging abnormalities have been identified in patients with and without attributable symptoms.…”