Entry - #270750 - SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23 - OMIM

 
ICD+
# 270750

SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23


Alternative titles; symbols

SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES
SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES
LISON SYNDROME


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1q32.1 Spastic paraplegia 23, autosomal recessive 270750 AR 3 DSTYK 612666
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal recessive
HEAD & NECK
Head
- Microcephaly (in some patients)
Face
- Thin face
- Micrognathia
- Retrognathia
SKIN, NAILS, & HAIR
Skin
- Patchy vitiligo
- Hyperpigmentation of exposed areas
- Lentigines
Hair
- Premature graying of body hair
NEUROLOGIC
Central Nervous System
- Spastic paraplegia, severe
- Lower limb weakness
- Hyperreflexia
- Extensor plantar responses
- Cognitive impairment, mild
Peripheral Nervous System
- Peripheral neuropathy, mild, in some
MISCELLANEOUS
- Pigmentary abnormalities apparent at birth or in infancy
- Onset of spasticity in childhood
MOLECULAR BASIS
- Caused by mutation in the dual serine/threonine and tyrosine protein kinase gene (DSTYK, 612666.0005)
▲ Close
Spastic paraplegia - PS303350 - 83 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.13 Spastic paraplegia 78, autosomal recessive AR 3 617225 ATP13A2 610513
1p34.1 Spastic paraplegia 83, autosomal recessive AR 3 619027 HPDL 618994
1p31.1-p21.1 Spastic paraplegia 29, autosomal dominant AD 2 609727 SPG29 609727
1p13.3 ?Spastic paraplegia 63, autosomal recessive AR 3 615686 AMPD2 102771
1p13.2 Spastic paraplegia 47, autosomal recessive AR 3 614066 AP4B1 607245
1q32.1 Spastic paraplegia 23, autosomal recessive AR 3 270750 DSTYK 612666
1q42.13 ?Spastic paraplegia 44, autosomal recessive AR 3 613206 GJC2 608803
1q42.13 ?Spastic paraplegia 74, autosomal recessive AR 3 616451 IBA57 615316
2p23.3 Spastic paraplegia 81, autosomal recessive AR 3 618768 SELENOI 607915
2p22.3 Spastic paraplegia 4, autosomal dominant AD 3 182601 SPAST 604277
2p11.2 Spastic paraplegia 31, autosomal dominant AD 3 610250 REEP1 609139
2q33.1 Spastic paraplegia 13, autosomal dominant AD 3 605280 HSPD1 118190
2q37.3 Spastic paraplegia 30, autosomal dominant AD, AR 3 610357 KIF1A 601255
2q37.3 Spastic paraplegia 30, autosomal recessive AD, AR 3 610357 KIF1A 601255
3q12.2 ?Spastic paraplegia 57, autosomal recessive AR 3 615658 TFG 602498
3q25.31 Spastic paraplegia 42, autosomal dominant AD 3 612539 SLC33A1 603690
3q27-q28 Spastic paraplegia 14, autosomal recessive AR 2 605229 SPG14 605229
4p16-p15 Spastic paraplegia 38, autosomal dominant AD 2 612335 SPG38 612335
4p13 Spastic paraplegia 79A, autosomal dominant AD 3 620221 UCHL1 191342
4p13 Spastic paraplegia 79B, autosomal recessive AR 3 615491 UCHL1 191342
4q25 Spastic paraplegia 56, autosomal recessive AR 3 615030 CYP2U1 610670
5q31.2 Spastic paraplegia 72A, autosomal dominant AD 3 615625 REEP2 609347
5q31.2 ?Spastic paraplegia 72B, autosomal recessive AR 3 620606 REEP2 609347
6p25.1 Spastic paraplegia 77, autosomal recessive AR 3 617046 FARS2 611592
6p21.33 Spastic paraplegia 86, autosomal recessive AR 3 619735 ABHD16A 142620
6q23-q24.1 Spastic paraplegia 25, autosomal recessive AR 2 608220 SPG25 608220
7p22.1 Spastic paraplegia 48, autosomal recessive AR 3 613647 AP5Z1 613653
7q22.1 Spastic paraplegia 50, autosomal recessive AR 3 612936 AP4M1 602296
8p22 Spastic paraplegia 53, autosomal recessive AR 3 614898 VPS37A 609927
8p21.1-q13.3 Spastic paraplegia 37, autosomal dominant AD 2 611945 SPG37 611945
8p11.23 Spastic paraplegia 18B, autosomal recessive AR 3 611225 ERLIN2 611605
8p11.23 Spastic paraplegia 18A, autosomal dominant AD 3 620512 ERLIN2 611605
8p11.23 Spastic paraplegia 54, autosomal recessive AR 3 615033 DDHD2 615003
8p11.21 Spastic paraplegia 85, autosomal recessive AR 3 619686 RNF170 614649
8q12.3 Spastic paraplegia 5A, autosomal recessive AR 3 270800 CYP7B1 603711
8q24.13 Spastic paraplegia 8, autosomal dominant AD 3 603563 WASHC5 610657
9p13.3 Spastic paraplegia 46, autosomal recessive AR 3 614409 GBA2 609471
9q Spastic paraplegia 19, autosomal dominant AD 2 607152 SPG19 607152
10q22.1-q24.1 Spastic paraplegia 27, autosomal recessive AR 2 609041 SPG27 609041
10q24.1 Spastic paraplegia 9A, autosomal dominant AD 3 601162 ALDH18A1 138250
10q24.1 Spastic paraplegia 9B, autosomal recessive AR 3 616586 ALDH18A1 138250
10q24.1 Spastic paraplegia 64, autosomal recessive AR 3 615683 ENTPD1 601752
10q24.2 Spastic paraplegia 33, autosomal dominant AD 3 610244 ZFYVE27 610243
10q24.31 Spastic paraplegia 62, autosomal recessive AR 3 615681 ERLIN1 611604
10q24.32-q24.33 Spastic paraplegia 45, autosomal recessive AR 3 613162 NT5C2 600417
11p14.1-p11.2 ?Spastic paraplegia 41, autosomal dominant AD 2 613364 SPG41 613364
11q12.3 Silver spastic paraplegia syndrome AD 3 270685 BSCL2 606158
11q13.1 Spastic paraplegia 76, autosomal recessive AR 3 616907 CAPN1 114220
12q13.3 Spastic paraplegia 70, autosomal recessive AR 3 620323 MARS1 156560
12q13.3 Spastic paraplegia 10, autosomal dominant AD 3 604187 KIF5A 602821
12q13.3 Spastic paraplegia 26, autosomal recessive AR 3 609195 B4GALNT1 601873
12q23-q24 Spastic paraplegia 36, autosomal dominant AD 2 613096 SPG36 613096
12q24.31 Spastic paraplegia 55, autosomal recessive AR 3 615035 MTRFR 613541
13q13.3 Troyer syndrome AR 3 275900 SPART 607111
13q14 Spastic paraplegia 24, autosomal recessive AR 2 607584 SPG24 607584
13q14.2 Spastic paraplegia 88, autosomal dominant AD 3 620106 KPNA3 601892
14q12-q21 Spastic paraplegia 32, autosomal recessive AR 2 611252 SPG32 611252
14q12 Spastic paraplegia 52, autosomal recessive AR 3 614067 AP4S1 607243
14q13.1 ?Spastic paraplegia 90B, autosomal recessive AD 3 620417 SPTSSA 613540
14q13.1 Spastic paraplegia 90A, autosomal dominant AD 3 620416 SPTSSA 613540
14q22.1 Spastic paraplegia 3A, autosomal dominant AD 3 182600 ATL1 606439
14q22.1 Spastic paraplegia 28, autosomal recessive AR 3 609340 DDHD1 614603
14q24.1 Spastic paraplegia 15, autosomal recessive AR 3 270700 ZFYVE26 612012
14q24.3 Spastic paraplegia 87, autosomal recessive AR 3 619966 TMEM63C 619953
15q11.2 Spastic paraplegia 6, autosomal dominant AD 3 600363 NIPA1 608145
15q21.1 Spastic paraplegia 11, autosomal recessive AR 3 604360 SPG11 610844
15q21.2 Spastic paraplegia 51, autosomal recessive AR 3 613744 AP4E1 607244
15q22.31 Mast syndrome AR 3 248900 ACP33 608181
16p12.3 Spastic paraplegia 61, autosomal recessive AR 3 615685 ARL6IP1 607669
16q13 Spastic paraplegia 89, autosomal recessive AR 3 620379 AMFR 603243
16q23.1 Spastic paraplegia 35, autosomal recessive AR 3 612319 FA2H 611026
16q24.3 Spastic paraplegia 7, autosomal recessive AD, AR 3 607259 PGN 602783
17q25.3 Spastic paraplegia 82, autosomal recessive AR 3 618770 PCYT2 602679
19p13.2 Spastic paraplegia 39, autosomal recessive AR 3 612020 PNPLA6 603197
19q12 ?Spastic paraplegia 43, autosomal recessive AR 3 615043 C19orf12 614297
19q13.12 Spastic paraplegia 75, autosomal recessive AR 3 616680 MAG 159460
19q13.32 Spastic paraplegia 12, autosomal dominant AD 3 604805 RTN2 603183
19q13.33 ?Spastic paraplegia 73, autosomal dominant AD 3 616282 CPT1C 608846
22q11.21 Spastic paraplegia 84, autosomal recessive AR 3 619621 PI4KA 600286
Xq11.2 Spastic paraplegia 16, X-linked, complicated XLR 2 300266 SPG16 300266
Xq22.2 Spastic paraplegia 2, X-linked XLR 3 312920 PLP1 300401
Xq24-q25 Spastic paraplegia 34, X-linked XLR 2 300750 SPG34 300750
Xq28 MASA syndrome XLR 3 303350 L1CAM 308840
▲ Close

▼ TEXT

A number sign (#) is used with this entry because of evidence that spastic paraplegia-23 (SPG23) is caused by homozygous mutation in the DSTYK gene (612666) on chromosome 1q32.

▼ Description

Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017).


▼ Clinical Features

Abdallat et al. (1980) and Lison et al. (1981) reported a consanguineous Jordanian family in which 2 brothers and a sister from first-cousin parents had progressive spastic paraparesis and peripheral neuropathy, as well as disordered skin and hair pigmentation, including vitiligo, hyperpigmentation, numerous lentigines, and premature graying of body hair. Sural nerve biopsy showed axonal degeneration; skin biopsy showed abnormal epidermal pigmentation. The proband had diffusely depigmented hair and skin at birth. From the age of 6 months, patchy pigmentation developed, especially in exposed areas of the skin, and his hair developed irregular pigmentation. Progressive paraparesis was first noted at age 6 years. The face was thin with 'sharp' features. The syndrome was considered to be autosomal recessive.

Stewart et al. (1981) described 2 sisters and a brother and 2 daughters of 1 of the affected sisters who had spastic paraplegia, peroneal neuropathy and crural hypopigmentation mainly about the knees and in the upper pretibial area. Daras et al. (1983) described 2 brothers and a sister from first-cousin parents who had progressive spastic paraplegia and cerebellar ataxia together with large hyperpigmented nevi on the legs.

In an inbred Arab family in Israel, Mukamel et al. (1985) observed 4 affected sibs. All 4 sibs had severe incapacitating spastic paraparesis from early childhood, combined with abnormalities of skin and hair pigmentation. Two other sibs with similar dermatologic findings died at the ages of 3 and 4 months of sepsis. The proband, a 13-year-old boy, had microcephaly, canities, many cafe-au-lait spots and freckles all over his body, and spastic paraplegia. White hair was present from birth. Blumen et al. (2003) presented follow-up information on the family reported by Mukamel et al. (1985). The 4 affected sibs ranged in age from 22 to 32 years, and all had a prematurely aged facial appearance, with white scalp from birth and premature graying of eyebrows and eyelashes. Skin was hypopigmented in covered areas, with patchy, vitiligo-like depigmentation in sun-exposed areas. All affected sibs had severe weakness and spasticity of the lower extremities and mild cognitive impairment.

Bamforth (2003) described an 18-year-old girl of northern European ancestry with acquired hypopigmentation and neurologic abnormalities. Her parents were not consanguineous and had 4 other healthy children. The patient's features included vitiligo, diffuse lentigines, increased deep tendon reflexes, spastic gait, kyphoscoliosis, small stature, and normal intelligence. Mode of inheritance was not clear.

Lee et al. (2017) reported 2 unrelated families with SPG23, including 4 individuals from a consanguineous family of Kuwaiti-Jordanian descent and 2 sisters from a consanguineous Israeli family. The 23-year-old proband in the first family was described in detail. He had onset of waddling gait around age 2 to 3 years followed by spastic paraplegia; he was wheelchair-bound from age 9. He had premature graying of the hair and vitiligo-like skin lesions, as well as a horseshoe kidney detected on imaging; brain imaging showed no abnormalities. He had normal intelligence and no evidence of epilepsy or sensory impairment, but he and his younger affected brother both had bowel urgency and incontinence. The younger brother had febrile convulsions at age 6 and no urogenital anomalies. Two Israeli sisters had spastic paraparesis with hyperreflexia and extensor plantar responses, premature graying of the hair, vitiligo-like and pigmented skin lesions, and flexion contractures of the toes.


▼ Inheritance

The transmission pattern of SPG23 in the families reported by Lee et al. (2017) was consistent with autosomal recessive inheritance.


▼ Mapping

In an inbred affected Arab family first reported by Mukamel et al. (1985), Blumen et al. (2003) found linkage of the disorder to a 25-cM region on chromosome 1q24-q32 (maximum lod score of 3.05 near marker D1S2692). Haplotype analysis showed allele homozygosity in all affected members.


▼ Molecular Genetics

In affected members of 3 unrelated families of Middle Eastern descent with SPG23, including the family reported by Mukamel et al. (1985) and Blumen et al. (2003), Lee et al. (2017) identified a homozygous intragenic deletion/insertion in the DSTYK gene (612666.0005). The deletion, which was found by a combination of whole-exome sequencing, homozygosity analysis, and copy number variation analysis in the first family, segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. Skin biopsy from 1 of the patients showed markedly decreased immunolabeling for DSTYK compared to controls, consistent with a loss-of-function effect. Transmission electron microscopy showed focal loss of melanocytes with some remaining melanocytes showing ultrastructural features of swollen mitochondria with abnormal cristae and cytoplasmic vacuoles. Other cell types also showed these changes, findings that were consistent with increased susceptibility to stress and cell death. Patient cells and mouse fibroblasts with siRNA-mediated knockdown of Dstyk showed increased signs of apoptosis and cell death after UV exposure compared to controls.


▼ REFERENCES

  1. Abdallat, A., Davis, S. M., Farrage, J., McDonald, W. I. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. J. Neurol. Neurosurg. Psychiat. 43: 962-966, 1980. [PubMed: 7441281, related citations] [Full Text]

  2. Bamforth, J. S. Vitiligo-spasticity syndrome: new case. Clin. Dysmorph. 12: 137-139, 2003. [PubMed: 12868479, related citations] [Full Text]

  3. Blumen, S. C., Bevan, S., Abu-Mouch, S., Negus, D., Kahana, M., Inzelberg, R., Mazarib, A., Mahamid, A., Carasso, R. L., Slor, H., Withers, D., Nisipeanu, P., Navon, R., Reid, E. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann. Neurol. 54: 796-803, 2003. [PubMed: 14681889, related citations] [Full Text]

  4. Daras, M., Tuchman, A. J., David, S. Familial spinocerebellar ataxia with skin hyperpigmentation. J. Neurol. Neurosurg. Psychiat. 46: 743-744, 1983. [PubMed: 6886718, related citations] [Full Text]

  5. Lee, J. Y. W., Hsu, C.-K., Michael, M., Nanda, A., Liu, L.,McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E.,Hayday, T., Blumen, S. C., and 14 others. Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Am. J. Hum. Genet. 100: 364-370, 2017. [PubMed: 28157540, images, related citations] [Full Text]

  6. Lison, M., Kornbrut, B., Feinstein, A., Hiss, Y., Boichis, H., Goodman, R. M. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. Am. J. Med. Genet. 9: 351-357, 1981. [PubMed: 7294071, related citations] [Full Text]

  7. Mukamel, M., Weitz, R., Metzker, A., Varsano, I. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder: a new syndrome. Am. J. Dis. Child. 139: 1090-1092, 1985. [PubMed: 4061404, related citations] [Full Text]

  8. Stewart, R. M., Tunell, G., Ehle, A. Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome. Neurology 31: 754-757, 1981. [PubMed: 6264350, related citations] [Full Text]


Contributors:
Cassandra L. Kniffin - updated : 03/15/2017
Cassandra L. Kniffin - updated : 3/2/2004
Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 11/23/2021
carol : 05/13/2019
carol : 03/27/2017
ckniffin : 03/15/2017
wwang : 07/22/2009
tkritzer : 3/22/2004
tkritzer : 3/19/2004
mgross : 3/17/2004
tkritzer : 3/5/2004
ckniffin : 3/2/2004
mimadm : 3/12/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 6/4/1986

# 270750

SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23


Alternative titles; symbols

SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES
SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES
LISON SYNDROME


SNOMEDCT: 726608002;   ORPHA: 101003;   DO: 0110774;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1q32.1 Spastic paraplegia 23, autosomal recessive 270750 Autosomal recessive 3 DSTYK 612666

TEXT

A number sign (#) is used with this entry because of evidence that spastic paraplegia-23 (SPG23) is caused by homozygous mutation in the DSTYK gene (612666) on chromosome 1q32.

Description

Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017).


Clinical Features

Abdallat et al. (1980) and Lison et al. (1981) reported a consanguineous Jordanian family in which 2 brothers and a sister from first-cousin parents had progressive spastic paraparesis and peripheral neuropathy, as well as disordered skin and hair pigmentation, including vitiligo, hyperpigmentation, numerous lentigines, and premature graying of body hair. Sural nerve biopsy showed axonal degeneration; skin biopsy showed abnormal epidermal pigmentation. The proband had diffusely depigmented hair and skin at birth. From the age of 6 months, patchy pigmentation developed, especially in exposed areas of the skin, and his hair developed irregular pigmentation. Progressive paraparesis was first noted at age 6 years. The face was thin with 'sharp' features. The syndrome was considered to be autosomal recessive.

Stewart et al. (1981) described 2 sisters and a brother and 2 daughters of 1 of the affected sisters who had spastic paraplegia, peroneal neuropathy and crural hypopigmentation mainly about the knees and in the upper pretibial area. Daras et al. (1983) described 2 brothers and a sister from first-cousin parents who had progressive spastic paraplegia and cerebellar ataxia together with large hyperpigmented nevi on the legs.

In an inbred Arab family in Israel, Mukamel et al. (1985) observed 4 affected sibs. All 4 sibs had severe incapacitating spastic paraparesis from early childhood, combined with abnormalities of skin and hair pigmentation. Two other sibs with similar dermatologic findings died at the ages of 3 and 4 months of sepsis. The proband, a 13-year-old boy, had microcephaly, canities, many cafe-au-lait spots and freckles all over his body, and spastic paraplegia. White hair was present from birth. Blumen et al. (2003) presented follow-up information on the family reported by Mukamel et al. (1985). The 4 affected sibs ranged in age from 22 to 32 years, and all had a prematurely aged facial appearance, with white scalp from birth and premature graying of eyebrows and eyelashes. Skin was hypopigmented in covered areas, with patchy, vitiligo-like depigmentation in sun-exposed areas. All affected sibs had severe weakness and spasticity of the lower extremities and mild cognitive impairment.

Bamforth (2003) described an 18-year-old girl of northern European ancestry with acquired hypopigmentation and neurologic abnormalities. Her parents were not consanguineous and had 4 other healthy children. The patient's features included vitiligo, diffuse lentigines, increased deep tendon reflexes, spastic gait, kyphoscoliosis, small stature, and normal intelligence. Mode of inheritance was not clear.

Lee et al. (2017) reported 2 unrelated families with SPG23, including 4 individuals from a consanguineous family of Kuwaiti-Jordanian descent and 2 sisters from a consanguineous Israeli family. The 23-year-old proband in the first family was described in detail. He had onset of waddling gait around age 2 to 3 years followed by spastic paraplegia; he was wheelchair-bound from age 9. He had premature graying of the hair and vitiligo-like skin lesions, as well as a horseshoe kidney detected on imaging; brain imaging showed no abnormalities. He had normal intelligence and no evidence of epilepsy or sensory impairment, but he and his younger affected brother both had bowel urgency and incontinence. The younger brother had febrile convulsions at age 6 and no urogenital anomalies. Two Israeli sisters had spastic paraparesis with hyperreflexia and extensor plantar responses, premature graying of the hair, vitiligo-like and pigmented skin lesions, and flexion contractures of the toes.


Inheritance

The transmission pattern of SPG23 in the families reported by Lee et al. (2017) was consistent with autosomal recessive inheritance.


Mapping

In an inbred affected Arab family first reported by Mukamel et al. (1985), Blumen et al. (2003) found linkage of the disorder to a 25-cM region on chromosome 1q24-q32 (maximum lod score of 3.05 near marker D1S2692). Haplotype analysis showed allele homozygosity in all affected members.


Molecular Genetics

In affected members of 3 unrelated families of Middle Eastern descent with SPG23, including the family reported by Mukamel et al. (1985) and Blumen et al. (2003), Lee et al. (2017) identified a homozygous intragenic deletion/insertion in the DSTYK gene (612666.0005). The deletion, which was found by a combination of whole-exome sequencing, homozygosity analysis, and copy number variation analysis in the first family, segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. Skin biopsy from 1 of the patients showed markedly decreased immunolabeling for DSTYK compared to controls, consistent with a loss-of-function effect. Transmission electron microscopy showed focal loss of melanocytes with some remaining melanocytes showing ultrastructural features of swollen mitochondria with abnormal cristae and cytoplasmic vacuoles. Other cell types also showed these changes, findings that were consistent with increased susceptibility to stress and cell death. Patient cells and mouse fibroblasts with siRNA-mediated knockdown of Dstyk showed increased signs of apoptosis and cell death after UV exposure compared to controls.


REFERENCES

  1. Abdallat, A., Davis, S. M., Farrage, J., McDonald, W. I. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. J. Neurol. Neurosurg. Psychiat. 43: 962-966, 1980. [PubMed: 7441281] [Full Text: https://doi.org/10.1136/jnnp.43.11.962]

  2. Bamforth, J. S. Vitiligo-spasticity syndrome: new case. Clin. Dysmorph. 12: 137-139, 2003. [PubMed: 12868479] [Full Text: https://doi.org/10.1097/00019605-200304000-00013]

  3. Blumen, S. C., Bevan, S., Abu-Mouch, S., Negus, D., Kahana, M., Inzelberg, R., Mazarib, A., Mahamid, A., Carasso, R. L., Slor, H., Withers, D., Nisipeanu, P., Navon, R., Reid, E. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann. Neurol. 54: 796-803, 2003. [PubMed: 14681889] [Full Text: https://doi.org/10.1002/ana.10768]

  4. Daras, M., Tuchman, A. J., David, S. Familial spinocerebellar ataxia with skin hyperpigmentation. J. Neurol. Neurosurg. Psychiat. 46: 743-744, 1983. [PubMed: 6886718] [Full Text: https://doi.org/10.1136/jnnp.46.8.743]

  5. Lee, J. Y. W., Hsu, C.-K., Michael, M., Nanda, A., Liu, L.,McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E.,Hayday, T., Blumen, S. C., and 14 others. Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Am. J. Hum. Genet. 100: 364-370, 2017. [PubMed: 28157540] [Full Text: https://doi.org/10.1016/j.ajhg.2017.01.014]

  6. Lison, M., Kornbrut, B., Feinstein, A., Hiss, Y., Boichis, H., Goodman, R. M. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. Am. J. Med. Genet. 9: 351-357, 1981. [PubMed: 7294071] [Full Text: https://doi.org/10.1002/ajmg.1320090411]

  7. Mukamel, M., Weitz, R., Metzker, A., Varsano, I. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder: a new syndrome. Am. J. Dis. Child. 139: 1090-1092, 1985. [PubMed: 4061404] [Full Text: https://doi.org/10.1001/archpedi.1985.02140130028023]

  8. Stewart, R. M., Tunell, G., Ehle, A. Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome. Neurology 31: 754-757, 1981. [PubMed: 6264350] [Full Text: https://doi.org/10.1212/wnl.31.6.754]


Contributors:
Cassandra L. Kniffin - updated : 03/15/2017
Cassandra L. Kniffin - updated : 3/2/2004

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 11/23/2021
carol : 05/13/2019
carol : 03/27/2017
ckniffin : 03/15/2017
wwang : 07/22/2009
tkritzer : 3/22/2004
tkritzer : 3/19/2004
mgross : 3/17/2004
tkritzer : 3/5/2004
ckniffin : 3/2/2004
mimadm : 3/12/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 6/4/1986



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 5, 2024