Study: 20 Year follow up study

After recently commenting that there are few if any long term studies on patients with HNPP, along comes one, if they’re like buses then chances are we’ll have a spate of them.

Unfortunately this is an abstract only, the full article available for a fee. (link in title)

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience.

Author information

  • 1Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. Electronic address:
  • 2Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
  • 3Institute of Medical Genetics, Catholic University of the Sacred Heart, Rome, Italy.
  • 4Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; IRCCS, S. Raffaele-Pisana, Rome, Italy; Casa di Cura, S. Raffaele Cassino, Cassino, Italy.



Classic clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies, but a minority of patients present with an atypical clinical pattern, including CMT-like neuropathy, acute or chronic inflammatory demyelinating neuropathy-like polyneuropathy, and carpal tunnel syndrome. Electrophysiological examination plays a central role in the diagnosis of HNPP, disclosing a non-uniform conduction slowing, more pronounced at entrapment sites.


We report clinical, electrophysiological and pathological findings from 73 patients with HNPP, coming from 53 unrelated families, followed at our Institute of Neurology over a 20-year period.


Typical presentation with recurrent multiple mononeuropathies was observed in 28/64 (44%) patients. In the remaining 36/64 (56%), we observed an atypical clinical presentation, characterized by generalized weakness and cramps, chronic ulnar neuropathy, carpal tunnel syndrome, chronic sensory polyneuropathy, Guillain-Barrè-like presentation, and CMT-like presentation. Nine patients were asymptomatic for neuropathic symptoms. Nerve conduction studies showed in all cases a sensori-motor demyelinating polyneuropathy with conduction abnormalities preferentially localized at common entrapment sites. When performed, sural nerve biopsy disclosed the focal thickening of the myelin sheath in all patients.


About half of the patients with HNPP from our cohort showed an atypical clinical presentation. Neurophysiological examination represents the main tool for a proper diagnosis.

My Comments.

The thing that grabs my attention from this study is the disparity between the background, which seems to keep to the standard line that HNPP mostly causes  ‘recurrent painless mononeuropathies’, and that atypical presentations are not the norm. And, the results and conclusion which paint a different picture, where recurrent painless mononeuropathies are in the minority, 44%, whilst the previously thought of ‘atypical’ presentations, as a whole, have a higher incidence of 56%.

These figures appear to be more consistent with the reports found on patient self-help forums and groups. I have heard of many neurologists who have dismissed these ‘atypical’  presentations, and reports of such, as rare and anecdotal. Well not so any more. Still this is but one long-term study, and as is often the case, studies tend to find slightly different results, and it is only when the results of many such studies can be compared that true patterns emerge. But it’s a step in the right direction.


5 thoughts on “Study: 20 Year follow up study

  1. Great find Jon. Thanks for sharing. I hope there is a bus load of studies coming behind this one. That way in the future if any of my grandchildren do have HNPP they won’t have to fight their doctors like we do. Have a great week 🌼

  2. Feel relieved that these studies are a step in the right direction . I have DNA diagnosed HNPP for thr past 7 years. I am slowly getting worse, lived a very active life- now I suffer from fatigue that comes on rapidly after activity , cramps in legs, sore feet and ankles. Wrists weak, can’t bend over for very long ,and nerve entrapment areas that are painful. Walking any distance is slow and when my body has had enough,it will tell me.
    I use a wheelchair so I don’t get “stranded”. In a store. It has to be pushed. Wrists , arms too painful to do it myself. When I have had enough I have to go home right away,even if shopping isn’t finished.My bladder is slow to eliminate, have to go many times a day,even if it is a little bit.
    Then I have to lie down immediately,when I get home. That is my day. 3 to 5 o’clock is a real down time and my daughter cooks the meals. I have to wait sometimes because I cannot eat too quickly or I choke.

    • Please do re-post study links, the more people that know the better.
      I feel pretty much the same as you, the last 10 years or so has seen me slow right down, all those little palsies over the years have accumulated, so there’s hardly any part of my body left that doesn’t have a problem with numbness, weakness, pain, etc. And it takes so little to cause things to get worse. It is very tiring, and can become overwhelming if I do too much. And just how much is too much will vary depending on where the palsies are playing up.
      We have to try and not let it grind us down, it’s not easy, but take pleasure from the little things in life where ever they may crop up. My garden has been the greatest enjoyment over the past few years, I get frustrated that I can’t do as much as I used to, but just being out there really perks up my day.

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