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This rare neuropathy is caused by mutations in LITAF gene (lipopolysaccharide-induced tumor necrosis factor-alpha factor) located on chromosome 16p131 p12316,41,42 In a large study of 968 unrelated cases of CMT1, the percentage of patients with LITAF mutations was only 06%42 LITAF, also known as SIMPLE (small integral membrane protein of the lysosome/late endosome), is expressed on Schwann cells and may play a role in protein degradation pathways43
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Mutations in the early growth response 2 (ERG2) gene on chromosome 10q211 q221 are responsible for
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Figure 9 6 HNPP nerve biopsy Transverse section of toluidine blue-stained epon-embedded sural nerve from a patient with HNPP reveals scattered thinly myelinated nerve bers and bers with redundant myelin swellings (A) Teased Fiber preparation demonstrates a sausage-shaped myelin swelling or tomacula (B)
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affected manifest with a progressive or relapsing, generalized, and symmetric sensorimotor peripheral neuropathy that resembles CMT or even chronic in ammatory demyelinating polyneuropathy19,47,50 On examination, there is decreased sensation to all modalities, particularly large ber functions Muscle stretch re exes are usually reduced throughout, but these can be normal Pes cavus deformities and hammertoes are often evident as seen in CMT
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ber preparations47,52,58,61 The thickened myelin resembles as a sausage, hence the name tomaculous neuropathy (Latin: sausage) (Fig 9 6) These tomaculae represent redundant loops of myelin In addition, nerve biopsies reveal a reduction in large myelinated bers, segmental demyelination and remyelination, and axonal atrophy and degeneration similar to but not as severe as that seen in CMT1
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LABORATORY FEATURES
Although the clinical symptoms and signs are typically focal, NCS often reveal diffuse abnormalities19,47 51,53 55, 58,59,60 Sensory and motor NCS usually demonstrate moderately prolonged distal latencies and slightly slow NCV with normal or reduced amplitudes Slowing of NCVs, conduction block, and temporal dispersion are accentuated across typical sites of entrapment or compression (ie, the carpal and cubital tunnel, Guyon s canal, and across the bular head) and can also be demonstrated across sites of compression In addition, there also appears to be a distal accentuation of nerve conduction slowing, irrespective of possible compression47,48,55 However, this length-dependent slowing has not been appreciated by all56,57 NCS may also be abnormal in asymptomatic family members who carry the mutation
MOLECULAR GENETICS AND PATHOGENESIS
Approximately 85% of cases of HNPP are caused by an inverse of the mutation that is responsible for most cases of CMT1A19,47,62 While CMT1A is usually associated with a 15-MB duplication in chromosome 17p112, an extra copy of PMP-22 gene, HNPP is caused by inheritance of the chromosome with the corresponding 15-MB deletion of this segment and thus have only one copy of the PMP-22 gene (Fig 9 5) De novo deletions are usually paternally inherited and arise due to unequal crossingover during meiosis, while rare de novo mutations are of female origin and the result of intrachromosomal rearrangements28 In addition, as with CMT1A, mutations within the PMP-22 gene itself can cause HNPP63 Why some point mutations in the PMP-22 gene result in a CMT1A clinical phenotype and other are associated with a HNPP phenotype is not known It is speculated that mutations causing CMT1A produce a gain of function of the PMP-22 protein, while mutations causing HNPP cause a loss of function of the PMP-22 Nerve biopsies demonstrate an underexpression of PMP-22
Histopathology
Nerve biopsies demonstrate focal globular thickening of the myelin sheath, which is best appreciated on teased
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CHARCOT MARIE TOOTH DISEASE AND RELATED DISORDERS
mRNA and the protein31,33 that inversely correlate with the mean diameter of the axons and clinical severity64 Normal expression of PMP-22 appears important for proper axonal development
CMT DISEASE TYPE 2 (CMT2)
CLINICAL FEATURES
CMT2 refers to the axonal hereditary motor and sensory neuropathies Most of these are associated with autosomal-dominant inheritance The prevalence of CMT2 is about half that of CMT1 There are several well-de ned subtypes based on the clinical features and genetic localization (Table 9 1)9,21 23,65,66 70 CMT2A2 caused by mitofusin-2 mutations is the most common subtype accounting for approximately onethird of CMT2 cases overall70 72 The different subtypes can be dif cult to distinguish from one another and even from CMT1; however, there are clinical features that may be helpful CMT2 tends to present later in life compared to CMT1 Individuals who are affected usually become symptomatic in the second decade but some remain asymptomatic into late adult life while others present in the rst decade of life69,74 People with CMT2 tend to have less severe involvement of the intrinsic hand muscles than that appreciated in CMT1 In contrast, CMT2 is associated with more profound atrophy and weakness of both the anterior compartments (peroneal and anterior tibial) and the posterior compartments (gastrocnemius and soleus) of the distal legs compared to CMT1 Generalized are exia is rare in CMT2, while it is rather common in CMT1 Ankle re exes are usually absent in both types of diseases Individuals with CMT2 are less likely to have a tremor (Roussy Levy syndrome) than people with CMT1 Although patients generally do not complain of sensory loss or paresthesia, 50 70% of those with CMT2 have signi cant reductions in light touch, pain, joint position, and vibration sense While pes cavus and hammertoe deformities may be seen in CMT2, these are less frequent than in CMT1 There are some features that also help distinguish the different subtypes of CMT2 For example, optic atrophy, hearing loss, pyramidal tract, and subcortical white matter abnormalities on brain magnetic resonance imaging ndings are sometimes seen in CMT2A2, which was previously reported as hereditary motor and sensory neuropathy type 6 (HMSN VI)75,76 Severe mutilating neuropathic ulcerations similar to those typically seen in HSAN type 1 (HSAN1) sometimes complicate CMT2B77,78 80 CMT2B1 caused by homozygous mutations involving lamin A/C is allelic to limb-girdle muscular dystrophy 1B81 84 Most of the reported cases have been from North
Africa and the Middle East, where consanguineous marriages are not uncommon The age of onset has ranged from 6 to 27 years in these small series, and the course of the neuropathy is variable The neuropathy can progress rapidly with severe distal and proximal weakness of the arms and legs evolving in a few years, while other affected individuals have only mild weakness two decades after onset of symptoms CMT2C is associated with vocal cord paralysis and diaphragmatic weakness in addition to limb involvement3,85 87 The age of onset and symptoms are variable, and it can begin in infancy when it may manifest with breathing dif culties and stridor Laryngeal weakness is more often insidious in onset and presents as progressive hoarseness In addition, the phrenic nerves may be affected, leading to diaphragm weakness and reduced respiratory function, particularly with the affected individual being supine Some people will require tracheostomy and mechanical ventilation Severe atrophy of the distal limbs is common Individuals who are affected can develop proximal weakness as well There is mild sensory loss to all modalities and deep tendon re exes are reduced Pes cavus can be appreciated in some patients, but such foot deformities are not as common as seen in CMT1, CMT2A, or CMT2B Similar cases have been reported in the literature as hereditary distal spinal muscular atrophy with vocal cord paralysis85,87 However, because of concurrent sensory abnormalities most authorities consider this a subtype of CMT category rather than spinal muscular atrophy3,85 CMT2D is another genetically distinct autosomaldominant form of CMT289 93 The hands are more severely affected than the distal legs Selected wasting of the rst interosseus muscles is often appreciated Onset of weakness is usually appreciated in the late teens (range between the ages of 12 and 36 years) and the neuropathy has a slowly progressive course Distal hypesthesia to all sensory modalities and are exia are appreciated Pes cavus, hammertoes, and scoliosis are variably present Enlarged palpable nerves are not appreciated This disorder is allelic to distal spinal muscular atrophy type 590 92 CMT2E is a rare neuropathy usually manifested in the second or third decade of life with progressive distal leg weakness45,46,94 Some patients develop deafness Sensory loss, pes cavus, and are exia are also often appreciated on examination CMT2F was reported in a Russian family with symmetric weakness and atrophy of the distal legs greater than the arms, with onset age 15 25 years95,96 CMT2G was described in a large Spanish kinship with typical CMT2 phenotype, with an age at onset being 9 76 (mean 29) years Most patients developed symptoms in the second decade of life97 This disorder links may be allelic with CMT4H
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