CNS involvement in hereditary neuropathy with pressure palsies (HNPP)

Tackenberg, Björn; Möller, J. C.; Rindock, H.; Bień, Stanisław; Sommer, Norbert; Oertel, WH; Rosenow, Felix; Schepelmann, Karsten; Hamer, Hajo M.; Bandmann, Oliver

doi:10.1212/01.wnl.0000249185.78359.06

Cited by 22 publications

(16 citation statements)

References 8 publications

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“…Of note, although PMP22 is a known peripheral myelin protein, it has been shown that PMP22 is expressed in the CNS (Ohsawa et al 2006). Furthermore, neurological disorders caused by PMP22 duplication has been reported to have CNS phenotype (Tackenberg et al 2006), consistent with a role for PMP22 in CNS. Furthermore, other CNVs including myelin/oligodendrocyte related genes have been reported including RTN4R , (Kirov et al 2009) and LINGO-1 (Ikeda et al 2009).…”

Section: Background: Oligodendrocyte/myelin Dysfunction In Schizopsupporting

confidence: 58%

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Takahashi

Sakurai

Davis

et al. 2011

Progress in Neurobiology

294

220

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Multiple lines of evidence in schizophrenia, from brain imaging, studies in postmortem brains, and genetic association studies, have implicated oligodendrocyte and myelin dysfunction in this disease. Recent studies suggest that oligodendrocyte and myelin dysfunction leads to changes in synaptic formation and function, which could lead to cognitive dysfunction, a core symptom of schizophrenia. Furthermore, there is accumulating data linking oligodendrocyte and myelin dysfunction with dopamine and glutamate abnormalities, both of which are found in schizophrenia. These findings implicate oligodendrocyte and myelin dysfunction as a primary change in schizophrenia, not only as secondary consequences of the illness or treatment. Strategies targeting oligodendrocyte and myelin abnormalities could therefore provide therapeutic opportunities for patients suffering from schizophrenia.

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Section: Background: Oligodendrocyte/myelin Dysfunction In Schizopsupporting

confidence: 58%

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Takahashi

Sakurai

Davis

et al. 2011

Progress in Neurobiology

294

220

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“…His brain MRI was normal. To date only a few cases of central nervous system involvement have been described in HNPP …”

Section: Discussionmentioning

confidence: 99%

“…To date only a few cases of central nervous system involvement have been described in HNPP. [18][19][20] Authors of guidelines for diagnosis of HNPP recognize that electrophysiological criteria are met by the patients, even those who are asymptomatic and are older than age 15. 11 Our study stresses the role of electrophysiological testing of the parents of probands with clinical diagnosis of HNPP.…”

Section: Discussionmentioning

confidence: 99%

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

et al. 2014

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“…Central nervous system white matter lesions have been reported in isolated patients and in several members of a large family with HNPP [169-171]. A recent report on 15 HNPP patients described central nervous system involvement [60].…”

Section: Pmp22 Deletion - Hereditary Neuropathy With Liability To Prementioning

confidence: 99%

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Paassen

Kooi

Spaendonck‐Zwarts

et al. 2014

Orphanet J Rare Dis

151

121

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PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal.

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CNS involvement in hereditary neuropathy with pressure palsies (HNPP)

Cited by 22 publications

References 8 publications

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

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