Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis

Kilfoyle, Dean; Wu, Yanhong; Litchy, William J.; Klein, D M; Dyck, Peter J.; Kumar, Neeraj; Cunningham, John M.; Klein, Christopher J.

doi:10.1136/jnnp.2006.090076

Cited by 28 publications

(17 citation statements)

References 29 publications

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“…In that case, a 47‐year‐old patient showed an axonal neuropathy with sudden onset of numbness and pain of arms and legs that dominated the clinical picture, whereas muscle strength was normal even at the distal extremities and deep tendon reflexes were retained. A painful neuropathy characterized by acute onset with severe burning and stabbing pain was also reported in a 30‐year‐old patient belonging to a large American kindred with a MPZ mutation affecting a residue (His39) very close to that reported here (Kilfoyle et al, ) . A rapidly progressive neuropathy with severe motor impairment was described in six patients harbouring the Pro70Ser substitution.…”

Section: Discussionsupporting

confidence: 80%

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

Dacci

Taroni²,

Bella

et al. 2012

J Peripheral Nervous Sys

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Mutations in myelin protein zero (MPZ) protein result in a wide spectrum of peripheral neuropathies, from congenital hypomyelinating to late onset sensory and motor axonal forms. In some patients, neuropathic pain can be a prominent symptom, making the diagnosis challenging mainly in those with other risk factors for neuropathy. We describe a 77-year-old woman with impaired glucose tolerance presenting with rapidly progressive axonal neuropathy leading to excruciating pain and severe weakness of lower limbs within 2 years from the onset. Her son abruptly complained of similar painful symptoms at the age of 47 years. Molecular analysis revealed a novel heterozygous missense mutation (c.106A>G) in MPZ exon 2, causing the substitution of arginine-36 with glycine in the extracellular domain. Our observation suggests that MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy even presenting with rapid progression and at a very late age of onset.

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Section: Discussionsupporting

confidence: 80%

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

Dacci

Taroni²,

Bella

et al. 2012

J Peripheral Nervous Sys

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“…Some cases of connexin 32 and P0 mutation have been described in Charcot–Marie–Tooth disease associated with brainstem involvement and demyelinating lesions or brain magnetic resonance abnormalities 31 32. However, none of our patients presented PMP22 , P0 or connexin 32 mutations.…”

Section: Discussionmentioning

confidence: 52%

Relapsing demyelinating disease affecting both the central and peripheral nervous systems

Zephir

Stojkovic

Latour

et al. 2008

Journal of Neurology, Neurosurgery & Psychiatry

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The CNS and PNS demyelination, the absence of oligoclonal bands and the peripheral demyelination without conduction block indicate pathogenic mechanisms different from MS and CIDP. The chronology of events suggests an entity unlike that involved in acute demyelinating encephalomyelitis. Immunological reactivity against antigens common to peripheral and central myelin may explain why the demyelinating disease affected both the CNS and PNS.

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“…Much of this relates to the fact that positive sensory symptoms (paresthesias, burning, lancinating pain) are often absent in many motor and sensory inherited neuropathies, thus preventing earlier appreciation of the problem . Some inherited neuropathies or neuronopathies can have acute or subacute onset and rapid worsening, such as those caused by the mutations of: (1) myelin protein zero ( MPZ ), sometimes accompanied by an Adie pupil or bulbar involvement; (2) PMP22 deletion, leading to hereditary neuropathy with tendency to pressure palsies (HNPP); (3) septin 9 ( SEPT9 ), presenting with attacks of brachial plexus neuropathy; (4) androgen receptors ( AR ), causing spinobulbar muscular atrophy (Kennedy disease); and (5) mitofusin 2 ( MFN2 ), presenting with sudden‐onset optic neuropathy.…”

Section: Identification Of Inherited Neuropathiesmentioning

confidence: 99%

Inherited neuropathies: Clinical overview and update

2013

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Inherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations and genetic causes. Detailed neuromuscular evaluations, including nerve conduction studies, laboratory testing, and histopathologic examination, can assist in identification of the inherited component beyond family history. Genetic testing increasingly enables definitive diagnosis of specific inherited neuropathies. Diagnosis, however, is often complex, and neurologic disability may have both genetic and acquired components in individual patients. The decision of which genetic test to order or whether to order genetic tests is often complicated, and the strategies to maximize the value of testing are evolving. Apart from rare inherited metabolic neuropathies, treatment approaches remain largely supportive. We provide a clinical update of the various types of inherited neuropathies, their differential diagnoses, and distinguishing clinical features (where available). A framework is provided for clinical evaluations, including the inheritance assessment, electrophysiologic examinations, and specific genetic tests.

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Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis

Cited by 28 publications

References 29 publications

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

Relapsing demyelinating disease affecting both the central and peripheral nervous systems

Inherited neuropathies: Clinical overview and update

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