Spastic Paraplegia 8 - GeneReviews® - NCBI Bookshelf Warning: The NCBI web site requires JavaScript to function

and autosomal recessive spastic paraplegia [ Fink 2002 , Fink 2003 , Salinas et al 2008 ] (see Hereditary Spastic Paraplegia Overview for a

spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. See Spastic Paraplegia 15 . Imaging findings on

hereditary spastic paraplegia; 3. Review the differential diagnosis of uncomplicated hereditary spastic paraplegia, which includes complicated hereditary

Spastic Paraplegia 3A - GeneReviews® - NCBI Bookshelf Warning: The NCBI web site requires JavaScript to function

hereditary spastic paraplegia; 3. Review the differential diagnosis of uncomplicated hereditary spastic paraplegia, which includes complicated hereditary

C0037772 • Disease or Syndrome Synonyms: Paraplegia, Spastic; Paraplegias, Spastic; Spastic Paraplegia; Spastic Paraplegias SNOMED CT: Spastic paraplegia (192967009)   HPO: HP:0001258

Microbe Tests Labs Search Advanced search for tests GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia Hereditary spastic paraplegia Synonyms

ID: C3810160 • Disease or Syndrome SNOMED CT: Autosomal spastic paraplegia type 72 (782727008) Definition Autosomal spastic paraplegia type 72 is a

341387 • Concept ID: C1849128 • Disease or Syndrome Synonyms: KJELLIN SYNDROME; SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPASTIC PARAPLEGIA AND RETINAL

Synonyms: Spastic Paraplegia 6; SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 SNOMED CT: Autosomal dominant familial spastic paraplegia type 3 (732949006); Autosomal

C1863704 • Disease or Syndrome Synonyms: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8 SNOMED CT: Autosomal dominant spastic paraplegia type 8 (785305006) Modes

ID: C1836295 • Disease or Syndrome Synonym: Spastic paraplegia 28, autosomal recessive SNOMED CT: Autosomal recessive spastic paraplegia type 28 (763376002) Modes

Concept ID: C1858712 • Disease or Syndrome Synonyms: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY; SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY

Spastic paraplegia 80, autosomal dominant (Concept Id: C5193084) - MedGen - NCBI Warning: The NCBI web site requires

Syndrome Synonyms: Spastic paraplegia 12; SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 SNOMED CT: Autosomal dominant spastic paraplegia type 12 (763374004) Modes

recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum; Nakamura Osame syndrome; Spastic Paraplegia 11; Spastic paraplegia, mental

Disease or Syndrome Synonyms: Spastic Paraplegia 30; SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT SNOMED CT: Autosomal spastic paraplegia type 30 (763377006) Modes

Hereditary sensory and autonomic neuropathy with spastic paraplegia (Concept Id: C1850395) - MedGen - NCBI Warning: The NCBI web

or Syndrome Synonyms: Spastic paraplegia, optic atrophy, and neuropathy; SPOAN syndrome SNOMED CT: Spastic paraplegia, optic atrophy, neuropathy syndrome

Hereditary spastic paraplegia 49 (Concept Id: C3542549) - MedGen - NCBI Warning: The NCBI web site requires JavaScript to

C1849115 • Disease or Syndrome Synonyms: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A SNOMED CT: Autosomal recessive spastic paraplegia type 5A (763373005) Modes

339552 • Concept ID: C1846564 • Disease or Syndrome Synonyms: Autosomal recessive spastic paraplegia type 7; Hereditary spastic paraplegia Paraplegin type; Spastic paraplegia

ID: C1846046 • Disease or Syndrome Synonym: SPASTIC PARAPLEGIA 16, X-LINKED SNOMED CT: X-linked spastic paraplegia type 16 (783697000) Modes

ID: C5568980 • Disease or Syndrome Synonym: Spastic paraplegia 9b, autosomal recessive SNOMED CT: Autosomal recessive spastic paraplegia type 9B (1187467000) Modes

or Syndrome Synonyms: Spastic Paraplegia 44; SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE SNOMED CT: Autosomal recessive spastic paraplegia type 44 (723821002) Modes

ID: C2828721 • Disease or Syndrome Synonym: Spastic paraplegia 46, autosomal recessive SNOMED CT: Autosomal recessive spastic paraplegia type 46 (723822009) Modes

Spastic paraplegia, ataxia, and intellectual disability (Concept Id: C1843661) - MedGen - NCBI Warning: The NCBI

Kallmann syndrome with spastic paraplegia (Concept Id: C1839911) - MedGen - NCBI Warning: The NCBI web site requires JavaScript to

Optic Atrophy Spastic Paraplegia Syndrome   Monarch Initiative: MONDO:0010700 OMIM ® : 311100 Clinical features From HPO Spastic paraplegia MedGen UID: 20882 • Concept

C1836632 • Disease or Syndrome Synonyms: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 SNOMED CT: Autosomal recessive spastic paraplegia type 26 (726607007); GM2

Spastic paraplegia 85, autosomal recessive (Concept Id: C5562053) - MedGen - NCBI Warning: The NCBI web site requires

Disease or Syndrome Synonyms: LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA; Spastic paraplegia 35; Spastic paraplegia 35

C5567893 • Disease or Syndrome Synonyms: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 SNOMED CT: Autosomal recessive spastic paraplegia type 78 (1177168007); SPG78

Abnormality of the nervous system See: Feature record | Search on this feature Spastic paraplegia Spastic paraplegia MedGen UID

50 genetic types of complicated hereditary spastic paraplegia have been defined (see Hereditary Spastic Paraplegia Overview ). Management Evaluations Following

70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations

Azorean disease Hereditary spastic paraplegia 10 Hereditary spastic paraplegia 11 Hereditary spastic paraplegia 12 Hereditary spastic paraplegia 13 Hereditary spastic paraplegia

a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically

Abnormality of the nervous system See: Feature record | Search on this feature Spastic paraplegia Spastic paraplegia MedGen UID

ID: C1849128 • Disease or Syndrome Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive

Finding Abnormality of the nervous system See: Feature record | Search on this feature Paraplegia Paraplegia MedGen UID: 45323

dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper

Title Search term GeneReviews Advanced Search Help < Prev Next > Troyer Syndrome Synonyms: SPART -Related Hereditary Spastic Paraplegia ( SPART -HSP); SPG20 Emma

h epatopathy], e ncephalopathy, and L eigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1

with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can

Jokela. Initial Posting: November 29, 2012; Last Update: May 15, 2025. AP-4-Associated Hereditary Spastic Paraplegia Julian Alecu, Luca Schierbaum

50 genetic types of complicated hereditary spastic paraplegia have been defined (see Hereditary Spastic Paraplegia Overview ). Management Evaluations Following

70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations

a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset

own window Gene Phenotype  1 MOI GJC2 Hereditary lymphedema type IC (OMIM 613480 )  2 AD Spastic paraplegia 44 (see Hereditary Spastic

spastic paraplegia type 78 MedGen UID: 1799316 • Concept ID: C5567893 • Disease or Syndrome Autosomal recessive spastic paraplegia-78 is an adult

progressive neurodegeneration-blindness-ataxia-spasticity syndrome MedGen UID: 815995 • Concept ID: C3809665 • Disease or Syndrome Spastic paraplegia-79B (SPG79B) is an

mid-40s. Life span is thought to be normal. See: Condition Record Hereditary spastic paraplegia 46 MedGen UID: 473687

339T>G (p.Ser113Arg), was reported in affected individuals from one family with spastic paraplegia 42 (see Hereditary Spastic

the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs

deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic

deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic

deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic

daytime somnolence Behavior disorder ● Chronic pain ● Most often lumbosacral Respiratory involvement ● Terminal disease HSP = hereditary spastic paraplegia 1. Major cognitive decline

Syndrome Hereditary spastic paraplegia-72A (SPG72A) is a pure form of spastic paraplegia with onset of

Abnormality of the nervous system See: Feature record | Search on this feature Spastic paraplegia Spastic paraplegia MedGen UID

see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an

on the history of PBD complementation groups, see 214100. See: Condition Record Spastic paraplegia 80, autosomal dominant MedGen

the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus

ID: C1849128 • Disease or Syndrome Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive

health concerns including anxiety and depression; and (3) neurologic problems (including hypertonia, paraplegia, movement disorders, and

atrophy includes infantile neuronal ceroid-lipofuscinosis (CLN1 disease, Santavuori-Haltia), ataxia-telangiectasia , KIF1A -associated hereditary spastic paraplegia (OMIM 610357 ; see also

the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs

h epatopathy], e ncephalopathy, and L eigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1

or demyelinating neuropathy & postinfectious rhabdomyolysis Absence of cerebellar atrophy & myopathy GBA2 Spastic paraplegia 46  3 (OMIM 614409

in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq

cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31

of Kufor-Rakeb syndrome (see Neurodegeneration with Brain Iron Accumulation Disorders Overview ) and spastic paraplegia 78 (OMIM 617225 ). CLN

the duodenal mucosa. See: Condition Record Hereditary sensory and autonomic neuropathy with spastic paraplegia MedGen UID: 342492 • Concept

bowel, often becoming dependent on total parenteral nutrition (TPN). See: Condition Record Autosomal recessive complex spastic paraplegia type 9B MedGen UID

of coordination Cerebellar ataxia Dysmetria Limb dysmetria Upper limb dysmetria Conditions with this feature Hereditary spastic paraplegia 46 MedGen UID: 473687

of ETHE1 ) [ Tiranti et al 2009 ], Friedreich ataxia ( FXN ) [ Rötig et al 1997 ], hereditary spastic paraplegia 7 ( SPG7 ) [ Casari et

has been reported in some individuals with SCA2 and SCA3. Hereditary spastic paraplegia . Some individuals with hereditary

a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically

the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided

deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic

cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31

in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq

a general discussion of CDGs, see CDG1A (212065). See: Condition Record Hereditary spastic paraplegia 51 MedGen UID: 462406

Jokela. Initial Posting: November 29, 2012; Last Update: May 15, 2025. AP-4-Associated Hereditary Spastic Paraplegia Julian Alecu, Luca Schierbaum

with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1

biosynthetic gene in humans leads to a similar phenotype: hereditary spastic paraplegia. A second

Gait, and Aphasia); MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS; SPASTIC PARAPLEGIA 1, X-LINKED SNOMED

heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). See: Condition Record Hereditary spastic paraplegia 38 MedGen UID: 436764

progressive neurodegeneration-blindness-ataxia-spasticity syndrome MedGen UID: 815995 • Concept ID: C3809665 • Disease or Syndrome Spastic paraplegia-79B (SPG79B) is an

beginning in infancy or childhood (summary by Brun et al., 2010). See: Condition Record Spastic paraplegia, optic atropy, and

variation in the chromosome region 1p21.3-p13.3. See: Condition Record Spastic paraplegia, optic atropy, and

progressive neurodegeneration-blindness-ataxia-spasticity syndrome MedGen UID: 815995 • Concept ID: C3809665 • Disease or Syndrome Spastic paraplegia-79B (SPG79B) is an

ID: C1849128 • Disease or Syndrome Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive

called neurogenic bladder), liver disease, and joint deformities (contractures). See: Condition Record Hereditary spastic paraplegia 35 MedGen UID: 501249

linked forms of cone-rod dystrophy, see CORDX1 (304020). See: Condition Record Hereditary spastic paraplegia 55 MedGen UID: 761342

see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an

may suffer episodic deterioration, often in association with viral illnesses. See: Condition Record Spastic paraplegia, optic atropy, and

of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). See: Condition Record Hereditary spastic paraplegia 43 MedGen UID: 760531