HMSN-P

病気のお話です。
遺伝性運動感覚ニューロパチー（HMSN-P）と言われる、稀な遺伝性の神経疾患の家系が日本では２家系、滋賀と沖縄にあります。その中でも滋賀型といわれる家系を辿っていくと永源寺地域にルーツがあります。
私自身も何人かの人を診察させていただいていますが、皆さん病気に関わらずお元気です。
「病気を診る」のと「人を診る」どちらに偏ってもいけませんが、そのバランスが大切かと思います。

先日、その疾患が英国のジャーナル（J Neurol Neurosurg Psychiatry）に掲載されました。

http://jnnp.bmj.com/content/82/12/1402

（オリジナル全文を読むにはSign inが必要です）
それに対するLetterが東近江地域の神経内科の先生から出されました。
http://jnnp.bmj.com/cgi/eletters?lookup=by_date&days=60
とても論理的で詳細な神経所見に基づく病理的考察には頭が下がります。
このLetterの中で、ブラジルまでその家系を診察に行かれたそうです（まさに往診！）

このような先生方と地域で一緒に仕事ができることを誇らしく思うとともに、自分ももっと頑張らねばと思う今日この頃です。

（以下、Letterのみ転載します）

Pyramidal tract involvement in HMSN-P?
Kengo Maeda, Department of Neurology, National Hospital Organization Shiga Hospital 255 Gochi, Higashi-oumi, Shiga 527-8505, Japan Tel: +81-748-22-3030 Fax: +81-748-23-3383 E-mail: maeda-kengo@shiga-hosp.jp
Dear Editor,
I have read a postscript 'Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy' (HMSN-P)1 by Fujita et al with a great interest. HMSN-P is very rare and is found in only limited area (Two areas in Japan and Brazil). They discovered optineurin-positive inclusions as well as lower motor neuron involvement in the brainstem and spinal cord. They proposed a new classification of HMSN-P into the subgroup of amyotrophic lateral sclerosis (ALS). Also, they described the pathological changes in the lateral columns with neuronal loss in the precentral gyrus. This finding might also have encouraged them to consider the new classification. After I reported three Brazilian brothers with HMSN-P who had Okinawan ancestry2, I went to Brazil to see their siblings and another HMSN-P family3 and saw nine Brazilian HMSN-P patients in all. Moreover, I have seen six HMSN-P of Kansai (Shiga)-type in my hospital (V:3, V:11, V:16, and V:17 of pedigree 1, IV:8 and V:4 of pedigree 2)4. But, none of them showed clear pyramidal tract sign. A report of Shiga-type HMSN-P written in Japanese did not mention the involvement of pyramidal tract5. There was no description of the involvement of the corticospinal tract in the original paper by Takashima et al6. When the lower motor neurons and large sensory neurons in the dorsal root ganglion are severely damaged, pyramidal tract signs might be masked. That might be why we did not find any pyramidal tract signs in HMSN-P patients. I think that involvement of the pyramidal tract in HMSN-P is much more important than the presence of optineurin-positive inclusions in the lower motor neurons. But, we should be careful, because their postscript1 is a single case report. Moreover, the patient had multiple cerebral infarctions. These infarctions might explain the bilateral Babinski sign and pathological changes in the lateral columns. They did not show the density of Bets cells of the precentral gyrus or changes of the myelinated fibres in the posterior limbs of the internal capsule. Although their pathological study is quite important in the understanding of the pathomechanisms of HMSN-P or familial ALS, I think that it might be too early to propose the new classification of HMSN-P into the subgroup of ALS.

References 1)Fujita K, Yoshida M, Sako W, et al. Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 2011;82:1402-3. 2)Maeda K, Sugiura M, Kato H, et al. Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry. Clin Neurol Neurosurg 2007;109:830-2. 3)Patroclo CB, Lino AMM, Marchiori PE, et al. Autosomal dominant HMSN with proximal involvement: New Brazilian cases. Arq Neuropsiquatr 2009;67:892- 6. 4)Maeda K, Kaji R, Yasuno K, et al. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J Hum Genet 2007;52:907-14. 5)Takahashi M, Mitsui Y, Yorifuji S, et al. Clinical report of hereditary motor and sensory neuropathy with proximal dominance in Shiga prefecture. Rinsho Shikeigaku 2007;47:571-6. 6)Takashima H, Nakagawa M, Nakahara K, et al. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol 1997;41:771-80.