Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

Literature DB >> 1084423

X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

Abstract

A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally examined showing the pure form of the disease. Half of the affected males had many descendants, all normal. Linkage studies strongly suggest that this X-linked form of spastic paraplegia and Xg loci are not at a measurable distance on the X chromosome.

Entities: Disease

Mesh：

Substances：

Year: 1976 PMID： 1084423 PMCID： PMC1013396 DOI： 10.1136/jmg.13.3.217

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

20 in total

1. DIAGNOSTIC AND PROGNOSTIC SIGNIFICANCE OF SERUM ENZYMES. II. NEUROLOGIC DISEASES OTHER THAN MUSCULAR DYSTROPHY.

Authors: W M FOWLER; C M PEARSON
Journal: Arch Phys Med Rehabil Date: 1964-03 Impact factor: 3.966

2. SERUM CREATINE PHOSPHOKINASE (CPK) ACTIVITY IN DISORDERS OF HEART AND SKELETAL MUSCLE.

Authors: J W HESS; R P MACDONALD; R J FREDERICK; R N JONES; J NEELY; D GROSS
Journal: Ann Intern Med Date: 1964-12 Impact factor: 25.391

3. Hereditary spastic paraplegia. A family with ten injured.

Authors: Ø Aagenæs
Journal: Acta Psychiatr Scand Date: 1959 Impact factor: 6.392

4. A sex-linked recessive form of spastic paraplegia.

Authors: A W JOHNSTON; V A McKUSICK
Journal: Am J Hum Genet Date: 1962-03 Impact factor: 11.025

5. Hereditary cerebral palsy; a preliminary report.

Authors: J BLUMEL; E B EVANS; G W EGGERS
Journal: J Pediatr Date: 1957-04 Impact factor: 4.406

6. Hereditary spastic paraplegia.

Authors: F J FUNK
Journal: South Med J Date: 1957-08 Impact factor: 0.954

7. Sequential tests for the detection of linkage.

Authors: N E MORTON
Journal: Am J Hum Genet Date: 1955-09 Impact factor: 11.025

8. Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

Authors: G A SCHWARZ; C N LIU
Journal: AMA Arch Neurol Psychiatry Date: 1956-02

9. Hereditary (familial) spastic paraplegia.

Authors: G A SCHWARZ
Journal: AMA Arch Neurol Psychiatry Date: 1952-11

10. Hereditary spastic paraplegia with amyotrophy and pes cavus.

Authors: H G GARLAND; C E ASTLEY
Journal: J Neurol Neurosurg Psychiatry Date: 1950-05 Impact factor: 10.154

11 in total

Review 1. Hereditary spastic paraparesis: a review of new developments.

Authors: C McDermott; K White; K Bushby; P Shaw
Journal: J Neurol Neurosurg Psychiatry Date: 2000-08 Impact factor: 10.154

2. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Authors: Lúcia Inês Macedo-Souza; Fernando Kok; Silvana Santos; Luciana Licinio; Karina Lezirovitz; Rafaella M P Nascimento; Clarissa Bueno; Marcília Martyn; Emília K E A Leão; Mayana Zatz
Journal: Neurogenetics Date: 2008-05-08 Impact factor: 2.660

X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

1. DIAGNOSTIC AND PROGNOSTIC SIGNIFICANCE OF SERUM ENZYMES. II. NEUROLOGIC DISEASES OTHER THAN MUSCULAR DYSTROPHY.

2. SERUM CREATINE PHOSPHOKINASE (CPK) ACTIVITY IN DISORDERS OF HEART AND SKELETAL MUSCLE.

3. Hereditary spastic paraplegia. A family with ten injured.

4. A sex-linked recessive form of spastic paraplegia.

5. Hereditary cerebral palsy; a preliminary report.

6. Hereditary spastic paraplegia.

7. Sequential tests for the detection of linkage.

8. Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

9. Hereditary (familial) spastic paraplegia.

10. Hereditary spastic paraplegia with amyotrophy and pes cavus.

Review 1. Hereditary spastic paraparesis: a review of new developments.

2. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

3. Etiological heterogeneity in X-linked spastic paraplegia.

4. Allan-Herndon syndrome. I. Clinical studies.

5. Manifesting heterozygosity in sex-linked spastic paraplegia?

6. Familial spastic paraplegia with Kallmann's syndrome.

7. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.

8. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

9. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

10. Linkage studies of X-linked recessive spastic paraplegia using DNA probes.