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involving or derived from the senses; "sensory experience"; "sensory channels" (同)sensorial
relating to or controlled by the autonomic nervous system; "autonomic reflexes"

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《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
感覚の
自律神経の
世襲の,親譲りの / 遺伝的な,遺伝性の
(次にくる語の発音が母音で始まるときに用いる) / (子音[h]で始まり第1音節に強勢のない語の場合はanを用いることがある.ただし,この場合は[h]を発音しない)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/31 05:12:18」(JST)

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For the gene HSN2, see HSN2.

Not to be confused with Hereditary motor and sensory neuropathy.

Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease^[1] which inhibit sensation.

They are less common than Charcot-Marie-Tooth disease.^[2]

Classification

Five different clinical entities have been described under hereditary sensory and autonomic neuropathies – all characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Their incidence has been estimated to be about 1 in 25,000.

Type 1

Type 1 is the most common of the hereditary sensory and autonomic neuropathies (HSAN). Current names are: hereditary sensory neuropathy type I (HSN I), hereditary sensory and autonomic neuropathy type I (HSAN I).^[3] Historical names include: Hereditary sensory radicular neuropathy, ulcero-mutilating neuropathy, thevenard syndrome, familial trophoneurosis, mal perforant du pied, and familial syringomyelia.^[3] Sub-type 1C is also currently known as Charcot-Marie-Tooth type 2B syndrome (HMSN 2B).^[3]

Type 1 is transmitted as autosomal dominant trait and is characterized by a sensory deficit in the distal portion of the lower extremities, chronic perforating ulcerations of the feet and progressive destruction of underlying bones. Sweating abnormalities occur but other autonomic features are not found in this type. Symptoms appear in late childhood on early adolescence with trophic ulcers as pain sensation is affected more. Many patients have accompanying nerve deafness and atrophy of the peroneal muscles. Histopathologic examination reveals a marked reduction in the number of unmyelinated fibers. Motor nerve conduction velocities are normal, but the sensory nerve action potentials are absent.

Type 2, Congenital sensory neuropathy

Type 2, congenital sensory neuropathy (also historically known as Morvan's disease^[4]), is characterized by onset of symptoms in early infancy or childhood. Upper & lower extremities are affected with chronic ulcerations and multiple injuries to fingers and feet. Pain sensation is affected predominantly and deep tendon reflexes are reduced. Autoamputation of the distal phalanges is common and so is neuropathic joint degeneration. The NCV shows reduced or absent sensory nerve action potentials and nerve biopsy shows total loss of myelinated fibers and reduced numbers of unmyelinated fibers. It is inherited as an autosomal recessive condition.

Type 3, Familial dysautonomia

Main article: Familial dysautonomia

Type 3, familial dysautonomia (FD) or Riley-Day syndrome, is an autosomal recessive disorder seen predominantly in Jews of eastern European descent. Patients present with sensory and autonomic disturbances. Newborns have absent or weak suck reflex, hypotonia and hypothermia. Retarded physical development, poor temperature and motor incoordination are seen in early childhood. Other features include reduced or absent tears, depressed deep tendon reflexes, absent corneal reflex, postural hypotension and relative indifference to pain. Scoliosis is frequent. Intelligence remains normal. Many patients die in infancy and childhood. Lack of flare with intradermal histamine is seen. Histopathology of peripheral nerve shows reduced number of myelinated and non-myelinated axons. The catecholamine endings are absent.

Type 4, Congenital insensitivity to pain with anhidrosis

Main article: Congenital insensitivity to pain with anhidrosis

Type 4, congenital insensitivity to pain with anhidrosis (CIPA), is an autosomal recessive condition and affected infants present with episodes of hyperthermia unrelated to environmental temperature, anhidrosis and insensitivity to pain. Palmar skin is thickened and charcot joints are commonly present. NCV shows motor and sensory nerve action potentials to be normal. The histopathology of peripheral nerve biopsy reveals absent small unmyelinated fibers and mitochondria are abnormally enlarged.

Type 5, Congenital insensitivity to pain with partial anhidrosis

Type 5, congenital insensitivity to pain with partial anhidrosis,^[4] also manifests with congenital insensitivity to pain & anhidrosis. There is a selective absence of small myelinated fibers differentiating it from Type IV (CIPA).

Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGFβ) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGFβ protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. Binding of the NGFβ protein to its receptor transmits signals to the cell to grow and to mature and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGFβ signaling plays a role in pain sensation. Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain.

Associated genes

Type	Sub-type	Gene	Locus
HSAN 1	1A	SPTLC1^[5]	9q22.1-q22.3
	1B	unknown (OMIM 608088)^[3]	3p24–p22
	1C (= CMT2B, HMSN IIB)	RAB7A^[3]	3q21
	1D	unknown^[3]	unknown
HSAN 2		HSN2^[6]	12p13.33
HSAN 3 (Familial dysautonomia)		IKBKAP	9q31
HSAN 4 (CIPA)		NTRK1	1q21-q22
HSAN5		NGFβ^[7]^[8]	1p13.1
HSAN5		NTRK1^[9]

External links

GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory and Autonomic Neuropathy IV
GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I
GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory and Autonomic Neuropathy Type II

References

^ "eMedicine - Autonomic Neuropathy : Article by Cory Toth". http://www.emedicine.com/NEURO/topic720.htm.
^ Houlden H, Blake J, Reilly MM (October 2004). "Hereditary sensory neuropathies". Curr. Opin. Neurol. 17 (5): 569–77. doi:10.1097/00019052-200410000-00007. PMID 15367861. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1350-7540&volume=17&issue=5&spage=569.
^ ^a ^b ^c ^d ^e ^f Michaela Auer-Grumbach (March 2008). "Hereditary sensory neuropathy type I". Orphanet Journal of Rare Diseases 3 (7): 7. doi:10.1186/1750-1172-3-7. PMC 2311280. PMID 18348718. http://www.ojrd.com/content/3/1/7. Retrieved 2008-11-05.
^ ^a ^b Felicia B Axelrod and Gabrielle Gold-von Simson (October 3, 2007). "Hereditary sensory and autonomic neuropathies: types II, III, and IV". Orphanet Journal of Rare Diseases 2 (39): 39. doi:10.1186/1750-1172-2-39. PMC 2098750. PMID 17915006. http://www.ojrd.com/content/2/1/39. Retrieved 2008-11-04.
^ Houlden H, King R, Blake J, et al. (February 2006). "Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)". Brain 129 (Pt 2): 411–25. doi:10.1093/brain/awh712. PMID 16364956. http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=16364956.
^ Lafreniere RG, MacDonald ML, Dube MP, et al. (May 2004). "Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates". Am. J. Hum. Genet. 74 (5): 1064–73. doi:10.1086/420795. PMC 1181970. PMID 15060842. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)64371-7.
^ Einarsdottir E, Carlsson A, Minde J, et al. (February 19, 2004). "A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception". Hum. Mol. Genet. 13 (8): 799–805. doi:10.1093/hmg/ddh096. PMID 14976160. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=14976160. Retrieved 2008-11-04.
^ Minde J, Toolanen G, Andersson T, et al. (December 2004). "Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study". Muscle Nerve 30 (6): 752–760. doi:10.1002/mus.20172. PMID 15468048.
^ Henry Houlden, R. H. M. King, A. Hashemi-Nejad, et al. (April 2001). "A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V". Annals of Neurology 49 (4): 521–525. doi:10.1002/ana.103. PMID 11310631.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 遺伝性感覚自律神経ニューロパチー hereditary sensory and autonomic neuropathies
2. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
3. 多発性神経障害の概要 overview of polyneuropathy
4. 小児における後天性末梢性ニューロパチーの概要 overview of acquired peripheral neuropathies in children
5. 感覚消失患者へのアプローチ approach to the patient with sensory loss

English Journal

Three Turkish families with different transthyretin mutations.

Bekircan-Kurt CE1, Güneş N2, Yılmaz A3, Erdem-Özdamar S4, Tan E4.
Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Sep;25(9):686-92. doi: 10.1016/j.nmd.2015.05.010. Epub 2015 May 27.
Transthyretin (TTR)-related hereditary amyloidosis, also called familial amyloid polyneuropathy (FAP), is a rare autosomal dominant systemic disorder that presents with progressive axonal sensory, autonomic and/or motor neuropathies. The present report describes three families with three different T
PMID 26115788

Non-Truncating LIFR Mutation: Causal for Prominent Congenital Pain Insensitivity Phenotype with Progressive Vertebral Destruction?

Elsaid MF1, Chalhoub N2,3, Kamel H3, Ehlayel M4, Ibrahim N5, Elsayed A6, Kumar P7, Khalak H8, Ilyin VA9, Suhre K7,10, Abdel Aleem A3,3.
Clinical genetics.Clin Genet.2015 Aug 19. doi: 10.1111/cge.12657. [Epub ahead of print]
We present a Qatari family with two children who displayed a characteristic phenotype of congenital marked pain insensitivity with hypohidrosis and progressive aseptic destruction of joints and vertebrae resembling that of hereditary sensory and autonomic neuropathies (HSANs). The patients, aged 10
PMID 26285796

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.

Carr AS1, Pelayo-Negro AL2, Evans MR1, Laurà M1, Blake J3, Stancanelli C4, Iodice V4, Wechalekar AD5, Whelan CJ5, Gilmore JD5, Hawkins PN5, Reilly MM1.
Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2015 Aug 4. pii: jnnp-2015-310907. doi: 10.1136/jnnp-2015-310907. [Epub ahead of print]
BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is usually characterised by a progressive peripheral and autonomic neuropathy often with associated cardiac failure and is due to dominantly inherited transthyretin mutations causing accelerated amyloid deposition. The UK population is unique i
PMID 26243339

Japanese Journal

Nerve Growth Factor and the Physiology of Pain: Lessons from Congenital Insensitivity to Pain with Anhidrosis

Indo Yasuhiro,インドウヤスヒロ,犬童康弘
Clinical Genetics 82(4), 341-350, 2012-10
… to pain with anhidrosis (CIPA) is an autosomal recessivegenetic disorder characterized by insensitivity to pain, anhidrosis (the inability to sweat)and mental retardation.Nerve growth factor (NGF) is a well-known neurotrophic factor essential for thesurvival and maintenance of NGF-dependent neurons, including primary afferentneurons with thin fibers and sympathetic postganglionic neurons, during development.NGF is also considered to be an inflammatory mediator associated with pain, itch …
NAID 120004724836

Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis

Indo Yasuhiro,インドウヤスヒロ,犬童康弘
Expert Review of Neurotherapeutics 10(11), 1707-1724, 2010-11
… NGF is a well-known neurotrophic factor essential for the survival and maintenance of primary afferent neurons and sympathetic neurons. … NGF is also an inflammatory mediator associated with pain and itch. …
NAID 120003831096

Related Pictures

★リンクテーブル★

リンク元	「hereditary sensory neuropathy」「HSAN」「遺伝性感覚性自律神経性ニューロパチー」
拡張検索	「hereditary sensory and autonomic neuropathy type III」「hereditary sensory and autonomic neuropathy type I」「hereditary sensory and autonomic neuropathy type IV」
関連記事	「hereditary」「sensory」「autonomic」「neuropathy」「sensor」

「hereditary sensory neuropathy」

Hereditary sensory and autonomic neuropathy
	Classification and external resources
ICD-9	356.2
OMIM	162400 201300 223900 256800 608654
DiseasesDB	32501 32096 11631 32097 32610
MeSH	D009477