WordNet

suffering from spastic paralysis; "a spastic child"
a person suffering from spastic paralysis
relating to or characterized by spasm; "a spastic colon"; "spastic paralysis is a spastic form of cerebral palsy"
paralysis of the lower half of the body (most often as a result of trauma)

PrepTutorEJDIC

けいれん性麻痺患者
世襲の,親譲りの / 遺伝的な,遺伝性の
対麻痺(ついまひ)(病気による両下肢(し)の麻痺)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/10/15 21:41:01」(JST)

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Hereditary Spastic Paraplegia (HSP), also called Familial Spastic Paraplegias, French Settlement Disease, or Strumpell-Lorrain disease, is a group of inherited diseases whose main feature is progressive stiffness and contraction (spasticity) in the lower limbs,^[1] as a result of damage to or dysfunction of the nerves.^[2]^[3]

HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as, for example, spastic diplegia. The origins of HSP are entirely separate phenomena from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to try to treat HSP symptomatology.

The condition sometimes also affects the optic nerve and retina of the eye, causes cataracts, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness.^[4] HSP is caused by defects in the mechanisms that transport proteins and other substances through the cell. Long nerves are affected because they have to transport cellular material through long distances, and are particularly sensitive to defects of cellular transport.^[5]

Hereditary Spastic Paraplegia was first described in 1883 by Adolph Strümpell, a German neurologist, and was later described more extensively in 1888 by Maurice Lorrain, a French physician.

Neuropathology[edit]

The major neuropathologic feature of HSP is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts. These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis.^[6] The spinocerebellar tract is involved to a lesser extent. Neuronal cell bodies of degenerating fibers are preserved and there is no evidence of primary demyelination.^[7] Loss of anterior spinal horn is observed in some cases. Dorsal root ganglia, posterior roots and peripheral nerves are normal.^[8]

Classification[edit]

Hereditary spastic paraplegias are classified based on the symptoms; on their mode of inheritance; on the patient’s age at onset; and, ultimately, on the gene associated with the condition.

Based on symptoms[edit]

Spasticity in the lower limbs alone is described as pure HSP. On the other hand, HSP is classified as complex or complicated when associated with other neurological signs, including ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction or epilepsy, or with extraneurological signs. Complicated forms are diagnosed as HSPs when pyramidal signs are the predominant neurological characteristic. This classification, however, is subjective and patients with complex HSPs are sometimes diagnosed as having cerebellar ataxia, mental retardation or leukodystrophy.^[9]

Based on mode of inheritance[edit]

HSP being a group of genetic disorders, they follow general inheritance rules and can be inherited in an autosomal dominant, autosomal recessive or x-linked recessive manner. The mode of inheritance involved has a direct impact on the chances of inheriting the disorder.

Based on patient's age at onset[edit]

In the past, HSP also has been classified as type I or type II on the basis of the patient's age at the onset of symptoms, which influences the amount of spasticity versus weakness. Type I is characterized by age onset below 35 years, whereas Type II is characterized by onset over 35 years. In the type I cases, delay in walking is not infrequent and spasticity of the lower limbs is more marked than weakness. In the type II muscle weakness, urinary symptoms and sensory loss are more marked. Furthermore, type II form of HSP usually evolves more rapidly.^[10]

Based on associated gene[edit]

The symptoms previously described are the results of a degeneration of the corticospinal tracts. The longest fibers, innervating the lower extremities, are the most affected. This explains why the spasticity and pyramidal signs are often limited to the lower limbs in patients. This neuronal degeneration is thought to be caused by mutations at specific genes. Genetic mapping has identified at least 52 different HSP loci, designated SPG (Spastic ParapleGia) 1 through 52 ^[11] in order of their discovery. Different genetic types of HSP usually cannot be distinguished by clinical and neuroimaging parameters alone. This reflects both the clinical similarity between different types of HSP and the phenotypic variability within a given genetic type of HSP. Furthermore, there may be significant clinical variability within a given family in which all subjects have the same HSP gene mutation; between families with the same genetic type of HSP; and between families with different genetic types of HSP.^[12]

Name Alternate names	OMIM	Gene	Locus	Inheritance	Characteristics
SPG1 Masa syndrome Gareis-Mason syndrome Crash syndrome	303350	L1CAM	Xq28	X-linked	Mutations in this protein interfere with its role in neurite outgrowth guidance, neuronal cell migration and neuronal cell survival, causing reduced corticospinal tracts.^[13]
SPG2	312920	PLP1	Xq22	X-linked	Mutations in the proteolipid protein cause progressive leukodystrophy and dysmyelination, resulting in axonal degeneration.^[14]
SPG3A	182600	ATL1	14q11–q21	Autosomal dominant	SPG3A HSP is pure and almost indistinguishable from SPG4 HSP, except that it usually begins earlier, in childhood or adolescence. Atlastin contains conserved motifs for GTPase binding site and hydrolysis and is structurally homologous to guanylate binding protein 1 (GBP1).^[15] The functional importance of atlastin’s GTPase motif is indicated by a recently identified HSP mutation that showed a disrupted GTPase motif which is usually conserved. GBP1, to which atlastin shows homology, is a member of the dynamin family of large GTPases.^[16] Dynamins play essential roles in a wide variety of vesicle trafficking events: regulation of neurotrophic factors;^[17] recycling of synaptic vesicles;^[18] maintenance and distribution of mitochondria;^[19] maintenance of the cytoskeleton via association to actin and microtubules.^[20] The important and diverse functions of dynamins raise many interesting possibilities by which atlastin mutations could cause axonal degeneration. These possibilities include defective synaptic vesicle recycling leading to abnormal synaptic structure and impaired neurotransmission, impaired activation of selected neurotrophic factors, and impaired mitochondria distribution. Also known as Strumpell disease.
SPG4	182601	SPAST	2p22–p21	Autosomal dominant	SPG4 mutations are pathogenic because of haploinsufficiency (that is, decreased abundance of functionally normal spastin) rather that a dominant negative mechanism.^[21] Emerging evidence suggests that spastin may interact with microtubules. A recent research showed that antitubulin antibodies could precipitate spastin in vitro, hence indicating that spastin can bind to tubulin. More recently, another study showed that a spastin fusion protein colocalized with microtubules in Cos-7 and HeLa cells transfected with wild type and mutant SPG4 expression vectors. Findings that spastin may interact with microtubules support the hypothesis that disturbances in axonal cytoskeleton or transport underlie some forms of HSP.^[22]
SPG5A	270800	CYP7B1	8q21.3	Autosomal recessive
SPG5B	600146	SPG5B	?	Autosomal recessive	Described in one person.
SPG6	600363	NIPA1	15q11.1	Autosomal dominant	The function of NIPA1 is unknown. It is widely expressed in the central nervous system. The presence of nine alternating hydrophobic-hydrophilic domains suggests that NIPA1 might encode a transmembrane protein. This feature makes NIPA1 unique among HSP related proteins. The mutation on the NIPA1 gene appears to act through a dominant negative gain of function. This prediction is based on the fact that subjects who are missing one NIPA1 gene entirely do not develop HSP.^[23]
SPG7	607259	SPG7	16q24.3	Autosomal recessive	Because paraplegin is a protein found on the mitochondria, mutations in this protein cause mitochondrial malfunction in neurons, eventually leading to axonal degeneration. SPG7 knockout mice exhibit signs of HSP. Recent studies were conducted on homozygous SPG7/Paraplegin knockout mice. Histological analysis of the spinal cord showed axonal swelling, particularly in the lateral columns of the lumbar spinal cord, consistent with a retrograde axonopathy.^[24]
SPG8	603563	KIAA0196	8q24.13	Autosomal dominant
SPG9	601162	SPG9	10q23.3–q24.1	Autosomal dominant
SPG10	604187	KIF5A	12q13	Autosomal dominant	KIF5A is a motor protein that participates in the intracellular movement of organelles and microtubules in both anterograde and retrograde directions. Subjects with KIF5A mutation exhibit either uncomplicated HSP or HSP associated with distal muscle atrophy. The HSP-specific KIF5A mutation disrupted an asparagine residue, present on the kinesin heavy chain motor protein, that prevented stimulation of the motor ATPase by microtubule binding.^[25] Results obtained in a Drosophila model suggest that SPG10 is caused by the loss of endogenous kinesin-1 function due to the dominant-negative action of mutant KIF5A on kinesin-1 complexes.^[26]
SPG11	604360	SPG11	15q21.1	Autosomal recessive
SPG12	604805	RTN2	19q13	Autosomal dominant
SPG13	605280	HSPD1	2q33.1	Autosomal dominant	Although chaperonin 60 is known to encode mitochondrial proteins, the specific mechanisms by which mutations in that protein cause HSP are not yet known.^[27]
SPG14	605229	SPG14	3q27–q28	Autosomal recessive
SPG15 Kjellin syndrome	270700	ZFYVE26	14q24.1	Autosomal recessive	Characterized by progressive stiffness and increased reflexes in the leg muscles as well as retinal degeneration.^[28]
SPG16	300266	SPG16	Xq11.2	X-linked
SPG17 Silver syndrome	270685	BSCL2	11q13	Autosomal dominant	Phenotype overlapping with distal spinal muscular atrophy type VA.
SPG18	611225	ERLIN2	8p11.23	Autosomal recessive	Characterised by joint contractures and intellectual disability.
SPG19	607152	SPG19	9q	Autosomal dominant
SPG20 Troyer syndrome	275900	SPG20	13q12.3	Autosomal recessive	Mutations in this gene have shown to cause distal muscle wasting.^[29]
SPG23 Lison syndrome	270750	SPG23	1q24–q32	Autosomal recessive
SPG24	607584	SPG24	13q14	Autosomal recessive
SPG25	608220	SPG25	6q23–q24.1	Autosomal recessive
SPG26	609195	SPG26	12p11.1–q14	Autosomal recessive
SPG27	609041	SPG27	10q22.1–q24.1	Autosomal recessive
SPG28	609340	SPG28	14q21.3–q22.3	Autosomal recessive
SPG29	609727	SPG29	1p31.1–p21.1	Autosomal dominant
SPG30	610357	KIF1A	2q37.3	Autosomal recessive
SPG31	610250	REEP1	2p11.2	Autosomal dominant
SPG32	611252	SPG32	14q12–q21	Autosomal recessive
SPG33	610244	ZFYVE27	10q24.2	Autosomal dominant
SPG34	300750	SPG34	Xq24–q25	X-linked
SPG35	612319	FA2H	16q21–q23.1	Autosomal recessive
SPG36	613096	SPG36	12q23–q24	Autosomal dominant
SPG37	611945	SPG37	8p21.1–q13.3	Autosomal dominant
SPG38	612335	SPG38	4p16–p15	Autosomal dominant
SPG39 NTE-related motor neuron disorder	612020	PNPLA6	19p13.2	Autosomal recessive
SPG41	613364	SPG41	11p14.1–p11.2	Autosomal dominant
SPG42	612539	SLC33A1	3q25.31	Autosomal dominant
SPG44	613206	GJC2	1q42.13	Autosomal recessive	Described in one family.^[30]
SPG45	613162	SPG45	10q24.3–q25.11	Autosomal recessive
SPG46	614409	SPG46	9p21.2–q21.12	Autosomal recessive	Childhood onset, slowly progressive, associated with cerebellar signs, mild cognitive decline, cataracts, and thin corpus callosum on brain imaging.^[31]
SPG47	614066	AP4B1	1p13.2	Autosomal recessive	Formerly called cerebral palsy – spastic quadriplegic type 5 (CPSQ5).
SPG48	613647	AP5Z1	7p22.1	Autosomal recessive	Described only in two patients.
SPG50	612936	AP4M1	7q22.1	Autosomal recessive	Formerly called cerebral palsy – spastic quadriplegic type 3 (CPSQ3). Characterised by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation.^[32]
SPG51	613744	AP4E1	15q21.2	Autosomal recessive	Formerly called cerebral palsy – spastic quadriplegic type 4 (CPSQ4).
SPG52	614067	AP4S1	14q12	Autosomal recessive	Formerly called cerebral palsy – spastic quadriplegic type 6 (CPSQ6).
SPOAN	609541	?	11q13	Autosomal recessive	Spastic paraplegia with optic atrophy and neuropathy
SPAR	607565	?	?	?	Spastic paraplegia with ataxia and mental retardation
SPPP	182820	?	?	?	Spastic paraplegia with precocious puberty
Fryns macrocephaly	600302	?	?	?
Kallmann syndrome	308750	?	?	?

Symptoms[edit]

Symptoms depend on the type of HSP inherited. The main feature of the disease is progressive spasticity in the lower limbs, due to pyramidal tract dysfunction. This also results in brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances. Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia.^[33] Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. Symptoms of HSP may begin at any age, from infancy to older than 60 years. If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses insidiously over many years. Canes, walkers, and wheelchairs may eventually be required, although some people never require assistance devices.^[12] More specifically, patients with the autosomal dominant pure form of HSP reveal normal facial and extraocular movement. Although jaw jerk may be brisk in older subjects, there is no speech disturbance or difficulty of swallowing. Upper extremity muscle tone and strength are normal. In the lower extremities, muscle tone is increased at the hamstrings, quadriceps and ankles. Weakness is most notable at the iliopsoas, tibialis anterior, and to a lesser extent, hamstring muscles.^[10] In the complex form of the disorder, additional symptoms are present. These include: peripheral neuropathy, amyotrophy, ataxia, mental retardation, ichthyosis, epilepsy, optic neuropathy, dementia, deafness, or problems with speech, swallowing or breathing.^[2]

Diagnosis[edit]

Initial diagnosis of HSPs relies upon family history, the presence or absence of additional signs and the exclusion of other nongenetic causes of spasticity, the latter being particular important in sporadic cases.^[9]

Cerebral and spinal MRI is an important procedure performed in order to rule out other frequent neurological conditions, such as multiple sclerosis, but also to detect associated abnormalities such as cerebellar or corpus callosum atrophy as well as white matter abnormalities. Differential diagnosis of HSP should also exclude spastic diplegia which presents with nearly identical day-to-day effects and even is treatable with similar medicines such as baclofen and orthopedic surgery; at times, these two conditions may look and feel so similar that the only perceived difference may be HSP's hereditary nature versus the explicitly non-hereditary nature of spastic diplegia (however, unlike spastic diplegia and other forms of spastic cerebral palsy, HSP cannot be reliably treated with selective dorsal rhizotomy).

Ultimate confirmation of HSP diagnosis can only be provided by carrying out genetic tests targeted towards known genetic mutations.

Prognosis[edit]

Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. Some cases are seriously disabling while others are less disabling and are compatible with a productive and full life. The majority of individuals with HSP have a normal life expectancy.^[2]

Treatment[edit]

No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. Therapeutics offered to HSP patients include:

Baclofen – a voluntary muscle relaxant to relax muscles and reduce tone
Tizanidine – to treat nocturnal or intermittent spasms
Diazepam and Clonazepam – to decrease intensity of spasms
Oxybutynin chloride – an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems
Tolterodine tartate – an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems
Botulinum toxin – to reduce muscle overactivity
Antidepressants (such as selective serotonin re-uptake inhibitors, tricyclic antidepressants and monoamine oxidase inhibitors) – for patients experiencing clinical depression
Physical Therapy – to restore and maintain the ability to move; to reduce muscle tone; to maintain or improve range of motion and mobility; to increase strength and coordination; to prevent complications, such as frozen joints, contractures, or bedsores.

Epidemiology[edit]

Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people.^[34] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 of population – a higher rate, but in the same range as previous studies. No differences in rate relating to gender were found, and average age at onset was 24 years.^[35] In the United States, Hereditary Spastic Paraplegia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health which means that the disorder affects less than 200,000 people in the US population.^[34]

References[edit]

^ Fink JK (August 2003). "The hereditary spastic paraplegias: nine genes and counting". Arch. Neurol. 60 (8): 1045–9. doi:10.1001/archneur.60.8.1045. PMID 12925358.
^ ^a ^b ^c Depienne C, Stevanin G, Brice A, Durr A (2007). "Hereditary Spastic Paraplegia: An Update". Current Opinion in Neurology 20 (6): 674–680. doi:10.1097/WCO.0b013e3282f190ba. PMID 17992088.
^ "Classification".
^ NINDS Hereditary Spastic Paraplegia Information Page
^ De Matteis, M. A.; Luini, A. (2011). "Mendelian Disorders of Membrane Trafficking". New England Journal of Medicine 365 (10): 927–938. doi:10.1056/NEJMra0910494. PMID 21899453. edit
^ Behan W, Maia M (1974). "Strümpell's familial spastic paraplegia: genetics and neuropathology". J Neurol Neurosurg Psychiatry 37 (1): 8–20. doi:10.1136/jnnp.37.1.8. PMC 494557. PMID 4813430.
^ Harding AE (1993). "Hereditary Spastic Paraplegias". Semin Neurol 13 (4): 333–336. doi:10.1055/s-2008-1041143. PMID 8146482.
^ Schwarz GA, Liu C-N (1956). "Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations". AMA Arch Neurol Psychiatry 75 (2): 144–162. PMID 13282534.
^ ^a ^b Harding, AE (1983). Classification of the hereditary ataxias and paraplegias. New York: Lancet.
^ ^a ^b Harding AE (1981). "Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families". Journal of Neurology, Neurosurgery and Psychiatry. 44 (10): 871–883. doi:10.1136/jnnp.44.10.871.
^ Schüle R, Schöls L. "Genetics of hereditary spastic paraplegias" Semin Neurol. 2011 Nov;31(5):484-93.PMID: 22266886
^ ^a ^b Fink JK (2003). "The Hereditary Spastic Paraplegias". Archives of Neurology 60 (8): 1045–1049. doi:10.1001/archneur.60.8.1045. PMID 12925358.
^ Dahme M, Bartsch U, Martini R, Anliker B, Schachner M, Mantei N. (1997). "Disruption of the mouse L1 gene leads to malformations of the nervous system". Nature Genetics 17 (3): 346–349. doi:10.1038/ng1197-346. PMID 9354804.
^ Cambi F, Tartaglino L, Lubin FD, McCarren D. (1998). "X-liked pure familial spastic paraplegia: characterization of a large kindred with magnetic resonance imaging studies". Archives of Neurology 52 (7): 665–669. PMID 7619021.
^ Zhao X, Alvarado D, Rainier S, et al. (2001). "Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia". Nature Genetics 29 (3): 326–331. doi:10.1038/ng758. PMID 11685207.
^ Muglia M, Magariello A, Nicoletti G, et al. (2002). "Further evidence that SPG3A mutations cause autosomal dominant hereditary spastic paraplegia". Annuals of Neurology 51: 669–672.
^ Zhang Y, Moheban DB, Conway BR, Bhattacharyya A, Segal RA. (2000). "Cell surface Trk receptors mediate NGF-survival while internalized receptors regulate NGF-induced differentiation". Journal of Neuroscience. 20 (15): 5671–5678. PMID 10908605.
^ Carroll RC, Beattie EC, Xia H, et al. (1999). "Dynamin-dependent endocytosis of ionotropic glutamate receptors". Proceedings of National Academy of Sciences of the United States. 96 (24): 14112–14117. doi:10.1073/pnas.96.24.14112. PMC 24199. PMID 10570207.
^ Pitts KR, Yoon Y, Krueger EW, McNiven MA. (1999). "The Dynamin-like Protein DLP1 Is Essential for Normal Distribution and Morphology of the Endoplasmic Reticulum and Mitochondria in Mammalian Cells". Molecular Biology of the Cell. 10 (12): 4403–4417. PMC 25766. PMID 10588666.
^ Ochoa GC, Slepnev VI, Neff L, et al. (2000). "A Functional Link between Dynamin and the Actin Cytoskeleton at Podosomes". Journal of Cellular Biology. 150 (2): 377–389. doi:10.1083/jcb.150.2.377. PMC 2180219. PMID 10908579.
^ Hentati A, Deng H-X, Zhai BA, et al. (2000). "Novel mutations in spastin gene and absence of correlation with age at onset of symptoms". Neurology 55 (9): 1388–1390. PMID 11087788.
^ Rainier S, Jones SM, Esposito C, Otterud B, Leppert M, Fink JK. (1998). "Analysis of microtubule-associated protein 1a gene in hereditary spastic paraplegia". Neurology 51 (5): 1509–1510. PMID 9818901.
^ De Michele G, De Fusco M, Cavalcanti F, et al. (1998). "A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3". American Journal of Human Genetics. 63 (1): 135–139. doi:10.1086/301930. PMC 1377251. PMID 9634528.
^ Ferreirinha F, Quattrini A, Valsecchi V, Errico A, Ballabio A, Rugarli EI. (2001). "Mice lacking Paraplegin, a mitochondrial AAA protease involved in hereditary spastic paraplegia, show axonal degeneration and abnormal mitochondria". American Journal of Human Genetics. 69: 196.
^ Wang, L. L.; Worley, K.; Gannavarapu, A.; Chintagumpala, M. M.; Levy, M. L.; Plon, S. E. (2002). "Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome". The American Journal of Human Genetics 71 (1): 165–167. doi:10.1086/341234. PMC 384974. PMID 12016592. edit
^ Füger, P.; Sreekumar, V.; Schüle, R.; Kern, J. V.; Stanchev, D. T.; Schneider, C. D.; Karle, K. N.; Daub, K. J.; Siegert, V. K.; Flötenmeyer, M.; Schwarz, H.; Schöls, L.; Rasse, T. M. (2012). "Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model". In Copenhaver, Gregory P. PLoS Genetics 8 (11): e1003066. doi:10.1371/journal.pgen.1003066. PMC 3510046. PMID 23209432. edit
^ Hansen JJ, Durr A, Cournu-Rebeix I, et al. (2002). "Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60". American Journal of Human Genetics. 70 (5): 1328–1332. doi:10.1086/339935. PMC 447607. PMID 11898127.
^ "Hereditary spastic paraplegia 15".
^ Patel H, Cross H, Proukakis C, et al. (2002). "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia". Nature Genetics 31 (4): 347–348. doi:10.1038/ng937. PMID 12134148.
^ Orthmann-Murphy, J. L.; Salsano, E.; Abrams, C. K.; Bizzi, A.; Uziel, G.; Freidin, M. M.; Lamantea, E.; Zeviani, M.; Scherer, S. S.; Pareyson, D. (2008). "Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations". Brain 132 (2): 426–438. doi:10.1093/brain/awn328. PMC 2640216. PMID 19056803. edit
^ Boukhris, A.; Feki, I.; Elleuch, N.; Miladi, M. I.; Boland-Augé, A.; Truchetto, J. R. M.; Mundwiller, E.; Jezequel, N.; Zelenika, D.; Mhiri, C.; Brice, A.; Stevanin, G. (2010). "A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum". Neurogenetics 11 (4): 441–448. doi:10.1007/s10048-010-0249-2. PMID 20593214. edit
^ Verkerk, A. J. M. H.; Schot, R.; Dumee, B.; Schellekens, K.; Swagemakers, S.; Bertoli-Avella, A. M.; Lequin, M. H.; Dudink, J.; Govaert, P.; Van Zwol, A. L.; Hirst, J.; Wessels, M. W.; Catsman-Berrevoets, C.; Verheijen, F. W.; De Graaff, E.; De Coo, I. F. M.; Kros, J. M.; Willemsen, R.; Willems, P. J.; Van Der Spek, P. J.; Mancini, G. M. S. (2009). "Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy". The American Journal of Human Genetics 85: 40. doi:10.1016/j.ajhg.2009.06.004. edit
^ McAndrew CR, Harms P. (2003). "Paraesthesias during needle-through-needle combined spinal epidural versus single-shot spinal for elective caesarean section". Anaesthesia and Intensive Care. 31 (5): 514–517. PMID 14601273.
^ ^a ^b National Institute of Health (2008). "Hereditary Spastic Paraplegia Information Page". Retrieved 2008-04-30.
^ Erichsen, AK; Koht, J; Stray-Pedersen, A; Abdelnoor, M; Tallaksen, CM (2009 Jun). "Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.". Brain : a journal of neurology 132 (Pt 6): 1577–88. PMID 19339254.

External links[edit]

GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A
Hereditary spastic paraplegia at the Open Directory Project
GeneReviews/NCBI/NIH/UW entry on Hereditary Spastic Paraplegia Overview
Warner, Tom (January/February 2007). "Hereditary Spastic Paraplegia". Advances in Clinical Neuroscience & Rehabilitation 6 (6): 16–17.
Hereditary Spastic Paraplegia Support Group
Hereditary Spastic Paraplegia multi-language communication platform

UpToDate Contents

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1. 脊髄に影響を与える疾患 disorders affecting the spinal cord
2. 遺伝性感覚自律神経ニューロパチー hereditary sensory and autonomic neuropathies
3. 筋萎縮性側索硬化症およびその他の運動ニューロン疾患の診断 diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease
4. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
5. 銅欠乏性脊髄神経障害 copper deficiency myeloneuropathy

English Journal

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene.

Suzuki SO, Iwaki T, Arakawa K, Furuya H, Fujii N, Iwaki A.SourceDepartment of Neuropathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan, sosuzuki@np.med.kyushu-u.ac.jp.
Acta neuropathologica.Acta Neuropathol.2011 Dec;122(6):775-81. Epub 2011 Nov 20.
We report an autopsy case of rare adult-onset spastic paraplegia type 2 (SPG2) with a novel missense mutation in exon 7 of the proteolipid protein 1 gene (PLP1). The patient was a 67-year-old man whose elder brother had died of a similar disease with onset in his 40s. Thirty-three years before death
PMID 22101368

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

Stromillo ML, Malandrini A, Dotti MT, Battaglini M, Borgogni F, Tessa A, Storti E, Denora PS, Santorelli FM, Gaudiano C, Battisti C, Federico A, De Stefano N.SourceNeurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
Journal of neurology.J Neurol.2011 Dec;258(12):2240-7. Epub 2011 May 29.
The goal of this work was to assess brain structural and metabolic abnormalities of subjects with SPG11 and their relevance to clinical disability by using quantitative magnetic resonance (MR) metrics. Autosomal recessive hereditary spastic paraplegia (AR-HSP) with thin corpus callosum and cognitive
PMID 21625935